C5235139[trait identifier] AND "Mendelics"[submitter] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 801916	NM_001244008.2(KIF1A):c.3278A>G (p.Asp1093Gly)	KIF1A (D1001G +8 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30	GLikely benign
Select item 196129	NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser)	KIF1A (P1087S +8 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +6 more	GConflicting classifications of pathogenicity
Select item 801917	NM_001244008.2(KIF1A):c.2754T>G (p.Asp918Glu)	KIF1A (D918E +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 801918	NM_001244008.2(KIF1A):c.802G>A (p.Gly268Arg)	KIF1A (G268R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30	GLikely pathogenic
Select item 801919	NM_001244008.2(KIF1A):c.470T>C (p.Leu157Pro)	KIF1A (L157P)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30	GLikely pathogenic
Select item 801920	NM_001244008.2(KIF1A):c.233G>A (p.Gly78Asp)	KIF1A (G78D)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30	GLikely pathogenic
Select item 162052	NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu)	KIF1A (S58L)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +5 more	GPathogenic/Likely pathogenic