"Revvity Omics, Revvity"[submitter] AND "KIF1A"[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 282386	NM_001244008.2(KIF1A):c.5168C>T (p.Ala1723Val)	KIF1A (A1723V +14 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9 +6 more	GConflicting classifications of pathogenicity
Select item 435626	NM_001244008.2(KIF1A):c.5092G>A (p.Val1698Met)	KIF1A (V1597M +14 more)	Single nucleotide variant (missense variant)	not specified +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)	Neuropathy, hereditary sensory and autonomic, type 2A +6 more	GConflicting classifications of pathogenicity
Select item 1323148	NM_001244008.2(KIF1A):c.4869-2A>C	KIF1A	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 948932	NM_001244008.2(KIF1A):c.4846C>T (p.Arg1616Trp)	KIF1A (R1532W +14 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +3 more	GConflicting classifications of pathogenicity
Select item 566502	NM_001244008.2(KIF1A):c.4790C>T (p.Pro1597Leu)	KIF1A (P1597L +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +3 more	GConflicting classifications of pathogenicity
Select item 211287	NM_001244008.2(KIF1A):c.4585G>A (p.Ala1529Thr)	KIF1A (A1428T +14 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 858192	NM_001244008.2(KIF1A):c.4111G>A (p.Ala1371Thr)	KIF1A (A1270T +14 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2433124	NM_001244008.2(KIF1A):c.3994G>A (p.Ala1332Thr)	KIF1A (A1230T +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1469737	NM_001244008.2(KIF1A):c.3872G>A (p.Arg1291His)	KIF1A, LOC126806583 (R1189H +8 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +4 more	GConflicting classifications of pathogenicity
Select item 1331328	NM_001244008.2(KIF1A):c.3836C>T (p.Thr1279Met)	KIF1A, LOC126806583 (T1177M +8 more)	Single nucleotide variant (missense variant)	KIF1A-related disorder +6 more	GUncertain significance
Select item 2433125	NM_001244008.2(KIF1A):c.3712G>T (p.Val1238Phe)	KIF1A (V1136F +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 234725	NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr)	KIF1A (I1064T +8 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +7 more	GConflicting classifications of pathogenicity
Select item 464226	NM_001244008.2(KIF1A):c.3487T>A (p.Ser1163Thr)	KIF1A (S1062T +8 more)	Single nucleotide variant (missense variant)	History of neurodevelopmental disorder +4 more	GConflicting classifications of pathogenicity
Select item 2433131	NM_001244008.2(KIF1A):c.3272C>A (p.Ala1091Asp)	KIF1A (A1015D +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433127	NM_001244008.2(KIF1A):c.3247G>T (p.Ala1083Ser)	KIF1A (A1066S +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 532874	NM_001244008.2(KIF1A):c.3094A>T (p.Met1032Leu)	KIF1A (M931L +7 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +4 more	GConflicting classifications of pathogenicity
Select item 2092474	NM_001244008.2(KIF1A):c.2990C>A (p.Ala997Asp)	KIF1A (A930D +7 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 640892	NM_001244008.2(KIF1A):c.2920G>A (p.Val974Ile)	KIF1A (V882I +7 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +3 more	GUncertain significance
Select item 522643	NM_001244008.2(KIF1A):c.2570G>A (p.Arg857Gln)	KIF1A (R848Q +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +3 more	GConflicting classifications of pathogenicity
Select item 211277	NM_001244008.2(KIF1A):c.2132G>A (p.Arg711Gln)	KIF1A (R702Q +3 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 2433126	NM_001244008.2(KIF1A):c.2012A>C (p.Gln671Pro)	KIF1A (Q662P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689308	NM_001244008.2(KIF1A):c.1949+5G>A	KIF1A	Single nucleotide variant (intron variant)	not provided +3 more	GUncertain significance
Select item 2689307	NM_001244008.2(KIF1A):c.1743C>T (p.Val581=)	KIF1A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1418101	NM_001244008.2(KIF1A):c.1393C>T (p.Arg465Trp)	KIF1A (R481W +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +3 more	GUncertain significance
Select item 566657	NM_001244008.2(KIF1A):c.1276G>A (p.Val426Met)	KIF1A (V417M +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2433130	NM_001244008.2(KIF1A):c.962G>A (p.Gly321Asp)	KIF1A (G321D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 162059	NM_001244008.2(KIF1A):c.757G>A (p.Glu253Lys)	KIF1A (E253K)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +3 more	GPathogenic
Select item 2433128	NM_001244008.2(KIF1A):c.739G>A (p.Val247Met)	KIF1A (V247M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 208161	NM_001244008.2(KIF1A):c.647G>A (p.Arg216His)	KIF1A (R216H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 30169	NM_001244008.2(KIF1A):c.296C>T (p.Thr99Met)	KIF1A (T99M)	Single nucleotide variant (missense variant)	PEHO syndrome +4 more	GPathogenic
Select item 191158	NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp)	KIF1A (R75W)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9 +4 more	GConflicting classifications of pathogenicity
Select item 1344374	NM_001244008.2(KIF1A):c.182C>T (p.Ser61Leu)	KIF1A (S61L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 209165	NM_001244008.2(KIF1A):c.38G>A (p.Arg13His)	KIF1A (R13H)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic

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Items: 35