C5393830[trait identifier] AND "SIB Swiss Institute of Bioinformatics" - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 661562	NM_001244008.2(KIF1A):c.2554C>T (p.Arg852Cys)	KIF1A (R843C +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 583174	NM_001244008.2(KIF1A):c.1138C>T (p.Arg380Trp)	KIF1A (R380W)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +3 more	GConflicting classifications of pathogenicity
Select item 974917	NM_001244008.2(KIF1A):c.1048C>T (p.Arg350Trp)	KIF1A (R350W)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +2 more	GLikely pathogenic
Select item 974922	NM_001244008.2(KIF1A):c.967T>C (p.Ser323Pro)	KIF1A (S323P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9	GLikely pathogenic
Select item 869126	NM_001244008.2(KIF1A):c.920G>C (p.Arg307Pro)	KIF1A (R307P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9	GLikely pathogenic
Select item 418275	NM_001244008.2(KIF1A):c.920G>A (p.Arg307Gln)	KIF1A (R307Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9 +4 more	GPathogenic/Likely pathogenic
Select item 464261	NM_001244008.2(KIF1A):c.773C>T (p.Thr258Met)	KIF1A (T258M)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 280500	NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln)	KIF1A (R254Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9 +3 more	GPathogenic/Likely pathogenic
Select item 245636	NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp)	KIF1A (R254W)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +5 more	GPathogenic/Likely pathogenic
Select item 162061	NM_001244008.2(KIF1A):c.746T>A (p.Leu249Gln)	KIF1A (L249Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9	GLikely pathogenic
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 162058	NM_001244008.2(KIF1A):c.647G>C (p.Arg216Pro)	KIF1A (R216P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9	GConflicting classifications of pathogenicity
Select item 162056	NM_001244008.2(KIF1A):c.604G>C (p.Ala202Pro)	KIF1A (A202P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9	GLikely pathogenic
Select item 449043	NM_001244008.2(KIF1A):c.595G>A (p.Gly199Arg)	KIF1A (G199R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9 +2 more	GPathogenic/Likely pathogenic
Select item 974924	NM_001244008.2(KIF1A):c.556G>T (p.Val186Phe)	KIF1A (V186F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9	GLikely pathogenic
Select item 974913	NM_001244008.2(KIF1A):c.500G>A (p.Arg167His)	KIF1A (R167H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +3 more	GPathogenic/Likely pathogenic
Select item 162055	NM_001244008.2(KIF1A):c.499C>T (p.Arg167Cys)	KIF1A (R167C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9 +3 more	GPathogenic/Likely pathogenic
Select item 974915	NM_001244008.2(KIF1A):c.444G>T (p.Glu148Asp)	KIF1A (E148D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9	GLikely pathogenic
Select item 162054	NM_001244008.2(KIF1A):c.430G>T (p.Val144Phe)	KIF1A (V144F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9	GLikely pathogenic
Select item 162053	NM_001244008.2(KIF1A):c.305G>A (p.Gly102Asp)	KIF1A (G102D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9	GLikely pathogenic
Select item 422067	NM_001244008.2(KIF1A):c.304G>A (p.Gly102Ser)	KIF1A (G102S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +3 more	GPathogenic/Likely pathogenic
Select item 373905	NM_001244008.2(KIF1A):c.232G>A (p.Gly78Ser)	KIF1A (G78S)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +2 more	GPathogenic/Likely pathogenic
Select item 188057	NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu)	KIF1A (S69L)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 654820	NM_001244008.2(KIF1A):c.32G>A (p.Arg11Gln)	KIF1A (R11Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +3 more	GPathogenic/Likely pathogenic
Select item 424652	NM_001244008.2(KIF1A):c.31C>T (p.Arg11Trp)	KIF1A (R11W)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +5 more	GPathogenic/Likely pathogenic

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Items: 25