"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1344384	NM_001244008.2(KIF1A):c.5369G>A (p.Arg1790Gln)	KIF1A (R1677Q +15 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 588370	NM_001244008.2(KIF1A):c.5368C>T (p.Arg1790Trp)	KIF1A (R1689W +15 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +5 more	GConflicting classifications of pathogenicity
Select item 1344383	NM_001244008.2(KIF1A):c.5274C>T (p.Ser1758=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 282386	NM_001244008.2(KIF1A):c.5168C>T (p.Ala1723Val)	KIF1A (A1723V +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +5 more	GConflicting classifications of pathogenicity
Select item 435620	NM_001244008.2(KIF1A):c.5070G>A (p.Thr1690=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +7 more	GBenign/Likely benign
Select item 335254	NM_001244008.2(KIF1A):c.5064G>A (p.Pro1688=)	KIF1A	Single nucleotide variant (synonymous variant)	Spastic Paraplegia, Recessive +9 more	GConflicting classifications of pathogenicity
Select item 565660	NM_001244008.2(KIF1A):c.5063C>T (p.Pro1688Leu)	KIF1A (P1587L +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +5 more	GConflicting classifications of pathogenicity
Select item 211294	NM_001244008.2(KIF1A):c.5043G>A (p.Gly1681=)	KIF1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 335255	NM_001244008.2(KIF1A):c.5025G>A (p.Pro1675=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +5 more	GConflicting classifications of pathogenicity
Select item 1344382	NM_001244008.2(KIF1A):c.4964A>G (p.Glu1655Gly)	KIF1A (E1553G +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1194003	NM_001244008.2(KIF1A):c.4954C>T (p.Arg1652Trp)	KIF1A (R1550W +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 1344381	NM_001244008.2(KIF1A):c.4953C>T (p.Ala1651=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 335257	NM_001244008.2(KIF1A):c.4851C>T (p.Tyr1617=)	KIF1A	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 767059	NM_001244008.2(KIF1A):c.4834C>T (p.Leu1612=)	KIF1A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 2C +4 more	GConflicting classifications of pathogenicity
Select item 129395	NM_001244008.2(KIF1A):c.4812C>A (p.Thr1604=)	KIF1A	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 211290	NM_001244008.2(KIF1A):c.4781C>T (p.Ser1594Leu)	KIF1A (S1493L +14 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 377242	NM_001244008.2(KIF1A):c.4771C>T (p.Arg1591Trp)	KIF1A (R1490W +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +6 more	GConflicting classifications of pathogenicity
Select item 894961	NM_001244008.2(KIF1A):c.4717G>A (p.Val1573Ile)	KIF1A (V1472I +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 1344380	NM_001244008.2(KIF1A):c.4681A>G (p.Thr1561Ala)	KIF1A (T1459A +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 211289	NM_001244008.2(KIF1A):c.4638C>T (p.Asn1546=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +5 more	GConflicting classifications of pathogenicity
Select item 464253	NM_001244008.2(KIF1A):c.4612C>T (p.Arg1538Cys)	KIF1A (R1437C +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +5 more	GConflicting classifications of pathogenicity
Select item 211288	NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val)	KIF1A (A1434V +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +7 more	GConflicting classifications of pathogenicity
Select item 1344379	NM_001244008.2(KIF1A):c.4595C>T (p.Pro1532Leu)	KIF1A (P1430L +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 387294	NM_001244008.2(KIF1A):c.4545G>T (p.Pro1515=)	KIF1A	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 246243	NM_001244008.2(KIF1A):c.4511C>T (p.Thr1504Ile)	KIF1A (T1403I +14 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 129394	NM_001244008.2(KIF1A):c.4319-8C>T	KIF1A	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 642665	NM_001244008.2(KIF1A):c.4307C>T (p.Ala1436Val)	KIF1A (A1344V +14 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +3 more	GConflicting classifications of pathogenicity
Select item 565837	NM_001244008.2(KIF1A):c.4306G>A (p.Ala1436Thr)	KIF1A (A1335T +14 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +5 more	GConflicting classifications of pathogenicity
Select item 129393	NM_001244008.2(KIF1A):c.4143G>A (p.Pro1381=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +5 more	GBenign
Select item 1344378	NM_001244008.2(KIF1A):c.4122+9C>A	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344377	NM_001244008.2(KIF1A):c.3977C>T (p.Ser1326Phe)	KIF1A (S1224F +9 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GUncertain significance
Select item 335266	NM_001244008.2(KIF1A):c.3888C>T (p.Arg1296=)	KIF1A, LOC126806583	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 662255	NM_001244008.2(KIF1A):c.3887G>A (p.Arg1296His)	LOC126806583, KIF1A (R1195H +8 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 335267	NM_001244008.2(KIF1A):c.3852T>C (p.His1284=)	KIF1A, LOC126806583	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +6 more	GBenign/Likely benign
Select item 845809	NM_001244008.2(KIF1A):c.3829C>T (p.Arg1277Trp)	KIF1A, LOC126806583 (R1210W +8 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +5 more	GUncertain significance
Select item 391226	NM_001244008.2(KIF1A):c.3681G>A (p.Pro1227=)	KIF1A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 2C +6 more	GBenign/Likely benign
Select item 208649	NM_001244008.2(KIF1A):c.3668C>T (p.Thr1223Met)	KIF1A (T1122M +8 more)	Single nucleotide variant (missense variant)	Spastic Paraplegia, Recessive +9 more	GConflicting classifications of pathogenicity
Select item 129391	NM_001244008.2(KIF1A):c.3641-8C>T	KIF1A	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1101344	NM_001244008.2(KIF1A):c.3585-4A>G	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 234725	NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr)	KIF1A (I1064T +8 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +7 more	GConflicting classifications of pathogenicity
Select item 211284	NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=)	KIF1A	Single nucleotide variant (synonymous variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 284013	NM_001244008.2(KIF1A):c.3330G>A (p.Ala1110=)	KIF1A	Single nucleotide variant (synonymous variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 589276	NM_001244008.2(KIF1A):c.3288C>T (p.Arg1096=)	KIF1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 129390	NM_001244008.2(KIF1A):c.3282C>T (p.His1094=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +6 more	GBenign/Likely benign
Select item 196129	NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser)	KIF1A (P1087S +8 more)	Single nucleotide variant (missense variant)	History of neurodevelopmental disorder +6 more	GConflicting classifications of pathogenicity
Select item 335271	NM_001244008.2(KIF1A):c.3247G>A (p.Ala1083Thr)	KIF1A (A982T +8 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +6 more	GConflicting classifications of pathogenicity
Select item 211283	NM_001244008.2(KIF1A):c.3246C>T (p.Ala1082=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +6 more	GConflicting classifications of pathogenicity
Select item 435627	NM_001244008.2(KIF1A):c.3219CCT[2] (p.Leu1076del)	KIF1A (L1076del +8 more)	Microsatellite (inframe_deletion)	Hereditary spastic paraplegia +4 more	GUncertain significance
Select item 789409	NM_001244008.2(KIF1A):c.3132C>T (p.Ile1044=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +3 more	GConflicting classifications of pathogenicity
Select item 388175	NM_001244008.2(KIF1A):c.3132C>A (p.Ile1044=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +6 more	GConflicting classifications of pathogenicity
Select item 245637	NM_001244008.2(KIF1A):c.3085G>A (p.Val1029Met)	KIF1A (V1029M +7 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 129389	NM_001244008.2(KIF1A):c.3072C>T (p.Ser1024=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +6 more	GBenign
Select item 129388	NM_001244008.2(KIF1A):c.2979C>T (p.Ala993=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +6 more	GConflicting classifications of pathogenicity
Select item 211281	NM_001244008.2(KIF1A):c.2958G>C (p.Val986=)	KIF1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 211280	NM_001244008.2(KIF1A):c.2898C>G (p.Pro966=)	KIF1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 513625	NM_001244008.2(KIF1A):c.2582+7G>A	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia +5 more	GConflicting classifications of pathogenicity
Select item 211279	NM_001244008.2(KIF1A):c.2532C>T (p.Thr844=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +4 more	GConflicting classifications of pathogenicity
Select item 464221	NM_001244008.2(KIF1A):c.2480G>A (p.Arg827His)	KIF1A (R818H +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9 +3 more	GConflicting classifications of pathogenicity
Select item 211278	NM_001244008.2(KIF1A):c.2475C>T (p.Tyr825=)	KIF1A	Single nucleotide variant (synonymous variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 728046	NM_001244008.2(KIF1A):c.2409C>T (p.Asn803=)	KIF1A	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 129387	NM_001244008.2(KIF1A):c.2385C>T (p.Ala795=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +6 more	GBenign/Likely benign
Select item 1064038	NM_001244008.2(KIF1A):c.2359C>T (p.Arg787Trp)	KIF1A (R778W +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +3 more	GUncertain significance
Select item 748674	NM_001244008.2(KIF1A):c.2280T>C (p.Phe760=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 432631	NM_001244008.2(KIF1A):c.2269C>G (p.Gln757Glu)	KIF1A (Q748E +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 129385	NM_001244008.2(KIF1A):c.2235C>T (p.Ala745=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +5 more	GBenign
Select item 1344375	NM_001244008.2(KIF1A):c.2194C>T (p.Arg732Trp)	KIF1A (R723W +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 447650	NM_001244008.2(KIF1A):c.2088C>T (p.Asn696=)	KIF1A	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 573347	NM_001244008.2(KIF1A):c.1847C>T (p.Thr616Met)	KIF1A (T616M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 1344373	NM_001244008.2(KIF1A):c.1740A>G (p.Lys580=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 1112459	NM_001244008.2(KIF1A):c.1725C>T (p.Tyr575=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 129384	NM_001244008.2(KIF1A):c.1503A>G (p.Pro501=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +6 more	GBenign/Likely benign
Select item 382567	NM_001244008.2(KIF1A):c.1341+7G>T	KIF1A	Single nucleotide variant (intron variant)	not provided +4 more	GLikely benign
Select item 335277	NM_001244008.2(KIF1A):c.1221G>A (p.Leu407=)	KIF1A	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1344372	NM_001244008.2(KIF1A):c.1141G>A (p.Asp381Asn)	KIF1A (D381N)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 979181	NM_001244008.2(KIF1A):c.1115T>C (p.Leu372Pro)	KIF1A (L372P)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +1 more	GConflicting classifications of pathogenicity
Select item 129396	NM_001244008.2(KIF1A):c.991T>C (p.Leu331=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +6 more	GBenign
Select item 162060	NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp)	KIF1A (R316W)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9 +6 more	GPathogenic/Likely pathogenic
Select item 428604	NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu)	KIF1A (P305L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +4 more	GPathogenic/Likely pathogenic
Select item 335278	NM_001244008.2(KIF1A):c.882+8G>A	KIF1A	Single nucleotide variant (intron variant)	Spastic paraplegia +5 more	GConflicting classifications of pathogenicity
Select item 211299	NM_001244008.2(KIF1A):c.849C>T (p.Ser283=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +6 more	GConflicting classifications of pathogenicity
Select item 211298	NM_001244008.2(KIF1A):c.821C>T (p.Ser274Leu)	KIF1A (S274L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1344387	NM_001244008.2(KIF1A):c.799-5C>T	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 464261	NM_001244008.2(KIF1A):c.773C>T (p.Thr258Met)	KIF1A (T258M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +5 more	GPathogenic/Likely pathogenic
Select item 989194	NM_001244008.2(KIF1A):c.742G>A (p.Asp248Asn)	KIF1A (D248N)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +1 more	GConflicting classifications of pathogenicity
Select item 1344386	NM_001244008.2(KIF1A):c.720+3G>A	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia +3 more	GUncertain significance
Select item 1344385	NM_001244008.2(KIF1A):c.524G>A (p.Gly175Glu)	KIF1A (G175E)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1212477	NM_001244008.2(KIF1A):c.406G>A (p.Asp136Asn)	KIF1A (D136N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 129386	NM_001244008.2(KIF1A):c.234C>T (p.Gly78=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +5 more	GBenign
Select item 335282	NM_001244008.2(KIF1A):c.204G>T (p.Ala68=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +6 more	GConflicting classifications of pathogenicity
Select item 335283	NM_001244008.2(KIF1A):c.184-10C>T	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia +5 more	GBenign/Likely benign
Select item 335285	NM_001244008.2(KIF1A):c.183+7C>T	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +5 more	GConflicting classifications of pathogenicity
Select item 1344374	NM_001244008.2(KIF1A):c.182C>T (p.Ser61Leu)	KIF1A (S61L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 245852	NM_001244008.2(KIF1A):c.41C>T (p.Pro14Leu)	KIF1A (P14L)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GConflicting classifications of pathogenicity

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Items: 93