C5393830[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 532868	NM_001244008.2(KIF1A):c.4909G>A (p.Glu1637Lys)	KIF1A (E1637K +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +5 more	GConflicting classifications of pathogenicity
Select item 435623	NM_001244008.2(KIF1A):c.4665+4G>C	KIF1A	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 9 +4 more	GUncertain significance
Select item 834555	NM_001244008.2(KIF1A):c.3287G>A (p.Arg1096His)	KIF1A (R1096H +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1698756	NM_001244008.2(KIF1A):c.2798C>T (p.Ala933Val)	KIF1A (A916V +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 9 +2 more	GUncertain significance
Select item 945099	NM_001244008.2(KIF1A):c.2357C>T (p.Thr786Met)	KIF1A (T777M +3 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +2 more	GConflicting classifications of pathogenicity
Select item 418275	NM_001244008.2(KIF1A):c.920G>A (p.Arg307Gln)	KIF1A (R307Q)	Single nucleotide variant (missense variant)	KIF1A-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 211300	NM_001244008.2(KIF1A):c.883-3C>T	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +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)	not provided +2 more	GUncertain significance