"Athena Diagnostics Inc"[submitter] AND "KIF1A"[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1032199	NM_001244008.2(KIF1A):c.5350AGG[1] (p.Arg1785del)	KIF1A (R1701del +15 more)	Microsatellite (inframe_deletion)	Neuropathy, hereditary sensory, type 2C +3 more	GUncertain significance
Select item 655534	NM_001244008.2(KIF1A):c.5332C>T (p.Arg1778Trp)	KIF1A (R1711W +15 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 435620	NM_001244008.2(KIF1A):c.5070G>A (p.Thr1690=)	KIF1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +7 more	GBenign/Likely benign
Select item 498890	NM_001244008.2(KIF1A):c.5015G>A (p.Arg1672Gln)	KIF1A (R1571Q +14 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 804975	NM_001244008.2(KIF1A):c.4998T>C (p.Pro1666=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +3 more	GLikely benign
Select item 447657	NM_001244008.2(KIF1A):c.4955G>A (p.Arg1652Gln)	KIF1A (R1551Q +14 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +5 more	GConflicting classifications of pathogenicity
Select item 211292	NM_001244008.2(KIF1A):c.4927G>A (p.Asp1643Asn)	KIF1A (D1542N +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +6 more	GConflicting classifications of pathogenicity
Select item 390911	NM_001244008.2(KIF1A):c.4917G>A (p.Leu1639=)	KIF1A	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 447656	NM_001244008.2(KIF1A):c.4908C>T (p.Pro1636=)	KIF1A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 2C +4 more	GLikely benign
Select item 335256	NM_001244008.2(KIF1A):c.4889G>A (p.Arg1630Gln)	KIF1A (R1630Q +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +6 more	GConflicting classifications of pathogenicity
Select item 211291	NM_001244008.2(KIF1A):c.4875G>A (p.Pro1625=)	KIF1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 447655	NM_001244008.2(KIF1A):c.4813C>T (p.Pro1605Ser)	KIF1A (P1504S +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 129398	NM_001244008.2(KIF1A):c.4749C>T (p.Ser1583=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +5 more	GConflicting classifications of pathogenicity
Select item 335259	NM_001244008.2(KIF1A):c.4744-5C>T	KIF1A	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 586101	NM_001244008.2(KIF1A):c.4694A>G (p.Asn1565Ser)	KIF1A (N1464S +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +3 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 447654	NM_001244008.2(KIF1A):c.4555G>A (p.Glu1519Lys)	KIF1A (E1418K +14 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 129394	NM_001244008.2(KIF1A):c.4319-8C>T	KIF1A	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 464245	NM_001244008.2(KIF1A):c.4206G>A (p.Ser1402=)	KIF1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 704387	NM_001244008.2(KIF1A):c.4007+7C>T	KIF1A	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
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 450328	NM_001244008.2(KIF1A):c.3886C>G (p.Arg1296Gly)	KIF1A, LOC126806583 (R1195G +8 more)	Single nucleotide variant (missense variant)	not provided +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)	not provided +6 more	GBenign/Likely benign
Select item 586100	NM_001244008.2(KIF1A):c.3759G>A (p.Pro1253=)	KIF1A, LOC126806583	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +4 more	GConflicting classifications of pathogenicity
Select item 447653	NM_001244008.2(KIF1A):c.3680C>T (p.Pro1227Leu)	KIF1A (P1126L +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 208649	NM_001244008.2(KIF1A):c.3668C>T (p.Thr1223Met)	KIF1A (T1122M +8 more)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 464229	NM_001244008.2(KIF1A):c.3599C>T (p.Ser1200Leu)	KIF1A (S1200L +8 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9 +3 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)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 211285	NM_001244008.2(KIF1A):c.3468C>T (p.Ile1156=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +4 more	GConflicting classifications of pathogenicity
Select item 447652	NM_001244008.2(KIF1A):c.3375C>T (p.Asn1125=)	KIF1A	Single nucleotide variant (synonymous variant)	not specified +3 more	GUncertain significance
Select item 211284	NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +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 provided +6 more	GConflicting classifications of pathogenicity
Select item 586099	NM_001244008.2(KIF1A):c.3296A>G (p.Asn1099Ser)	KIF1A (N1099S +8 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +3 more	GConflicting classifications of pathogenicity
Select item 1807486	NM_001244008.2(KIF1A):c.3263T>C (p.Leu1088Pro)	KIF1A (L1012P +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196129	NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser)	KIF1A (P1087S +8 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 211283	NM_001244008.2(KIF1A):c.3246C>T (p.Ala1082=)	KIF1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 2684256	NM_001244008.2(KIF1A):c.3223C>T (p.Leu1075Phe)	KIF1A (L1008F +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807487	NM_001244008.2(KIF1A):c.3221T>G (p.Leu1074Arg)	KIF1A (L1007R +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 129397	NM_001244008.2(KIF1A):c.3202+10C>A	KIF1A	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 129388	NM_001244008.2(KIF1A):c.2979C>T (p.Ala993=)	KIF1A	Single nucleotide variant (synonymous variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 211281	NM_001244008.2(KIF1A):c.2958G>C (p.Val986=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +6 more	GConflicting classifications of pathogenicity
Select item 378046	NM_001244008.2(KIF1A):c.2813G>A (p.Arg938Gln)	KIF1A (R938Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 497030	NM_001244008.2(KIF1A):c.2721GGA[12] (p.Glu917dup)	KIF1A	Microsatellite (inframe_insertion +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 284274	NM_001244008.2(KIF1A):c.2721GGA[10] (p.Glu917del)	KIF1A (E917del +3 more)	Microsatellite (inframe_deletion +1 more)	not provided +3 more	GBenign/Likely benign
Select item 447651	NM_001244008.2(KIF1A):c.2750_2751insTGAGGAGGAGGA (p.Glu916_Glu917insAspGluGluGlu)	KIF1A	Microsatellite (inframe_insertion +1 more)	Spastic paraplegia +1 more	GUncertain significance
Select item 1704993	NM_001244008.2(KIF1A):c.2748G>T (p.Glu916Asp)	KIF1A (E899D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 994639	NM_001244008.2(KIF1A):c.2694C>G (p.Thr898=)	KIF1A	Single nucleotide variant (synonymous variant +1 more)	KIF1A-related condition +2 more	GBenign/Likely benign
Select item 424026	NM_001244008.2(KIF1A):c.2680G>A (p.Asp894Asn)	KIF1A (D894N +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 994638	NM_001244008.2(KIF1A):c.2481C>T (p.Arg827=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +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 provided +6 more	GConflicting classifications of pathogenicity
Select item 388347	NM_001244008.2(KIF1A):c.2445-8C>T	KIF1A	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 129387	NM_001244008.2(KIF1A):c.2385C>T (p.Ala795=)	KIF1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GBenign/Likely benign
Select item 447650	NM_001244008.2(KIF1A):c.2088C>T (p.Asn696=)	KIF1A	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 435629	NM_001244008.2(KIF1A):c.1898G>A (p.Arg633His)	KIF1A (R624H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 994637	NM_001244008.2(KIF1A):c.1768+4T>C	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +3 more	GUncertain significance
Select item 1506701	NM_001244008.2(KIF1A):c.1597G>A (p.Glu533Lys)	KIF1A (E533K +3 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +3 more	GUncertain significance
Select item 129384	NM_001244008.2(KIF1A):c.1503A>G (p.Pro501=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +6 more	GBenign/Likely benign
Select item 378043	NM_001244008.2(KIF1A):c.1437C>T (p.Ala479=)	KIF1A	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 994636	NM_001244008.2(KIF1A):c.1181-6C>G	KIF1A	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2684255	NM_001244008.2(KIF1A):c.1022C>T (p.Thr341Ile)	KIF1A (T341I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 335278	NM_001244008.2(KIF1A):c.882+8G>A	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +5 more	GConflicting classifications of pathogenicity
Select item 725432	NM_001244008.2(KIF1A):c.799-4G>A	KIF1A	Single nucleotide variant (intron variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 704557	NM_001244008.2(KIF1A):c.618G>A (p.Ala206=)	KIF1A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 2C +4 more	GBenign/Likely benign
Select item 705569	NM_001244008.2(KIF1A):c.531C>T (p.Tyr177=)	KIF1A	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 129386	NM_001244008.2(KIF1A):c.234C>T (p.Gly78=)	KIF1A	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 1256616	NM_001244008.2(KIF1A):c.220T>A (p.Tyr74Asn)	KIF1A (Y74N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 335282	NM_001244008.2(KIF1A):c.204G>T (p.Ala68=)	KIF1A	Single nucleotide variant (synonymous variant)	not provided +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)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 586098	NM_001244008.2(KIF1A):c.1A>G (p.Met1Val)	KIF1A (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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