C5235139[trait identifier] AND "SIB Swiss Institute of Bioinformatics" - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 869125	NM_001244008.2(KIF1A):c.4278C>G (p.Tyr1426Ter)	KIF1A (Y1325* +14 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 30	GLikely pathogenic
Select item 974920	NM_001244008.2(KIF1A):c.3380T>C (p.Ile1127Thr)	KIF1A (I1025T +8 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +1 more	GUncertain significance
Select item 974919	NM_001244008.2(KIF1A):c.2880C>A (p.Asn960Lys)	KIF1A (N859K +7 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30	GUncertain significance
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 869124	NM_001244008.2(KIF1A):c.1894C>T (p.Gln632Ter)	KIF1A (Q623* +3 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 30	GLikely pathogenic
Select item 974914	NM_001244008.2(KIF1A):c.1406C>G (p.Ala469Gly)	KIF1A (A460G +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 583174	NM_001244008.2(KIF1A):c.1138C>T (p.Arg380Trp)	KIF1A (R380W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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)	Hereditary spastic paraplegia 30 +2 more	GLikely pathogenic
Select item 37004	NM_001244008.2(KIF1A):c.1048C>G (p.Arg350Gly)	KIF1A (R350G)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30	GLikely pathogenic
Select item 418275	NM_001244008.2(KIF1A):c.920G>A (p.Arg307Gln)	KIF1A (R307Q)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +4 more	GPathogenic/Likely pathogenic
Select item 464261	NM_001244008.2(KIF1A):c.773C>T (p.Thr258Met)	KIF1A (T258M)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9 +5 more	GPathogenic/Likely pathogenic
Select item 280500	NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln)	KIF1A (R254Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +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, type 2C +5 more	GPathogenic/Likely pathogenic
Select item 974921	NM_001244008.2(KIF1A):c.756C>G (p.Ser252Arg)	KIF1A (S252R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30	GLikely pathogenic
Select item 974916	NM_001244008.2(KIF1A):c.518T>C (p.Leu173Pro)	KIF1A (L173P)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30	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)	Neuropathy, hereditary sensory, type 2C +3 more	GPathogenic/Likely pathogenic
Select item 974923	NM_001244008.2(KIF1A):c.317C>A (p.Thr106Asn)	KIF1A (T106N)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30	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)	Hereditary spastic paraplegia 30 +2 more	GPathogenic/Likely pathogenic
Select item 974926	NM_001244008.2(KIF1A):c.221A>G (p.Tyr74Cys)	KIF1A (Y74C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 188057	NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu)	KIF1A (S69L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +3 more	GPathogenic/Likely pathogenic
Select item 974925	NM_001244008.2(KIF1A):c.167A>G (p.Tyr56Cys)	KIF1A (Y56C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 974918	NM_001244008.2(KIF1A):c.89T>C (p.Met30Thr)	KIF1A (M30T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 654820	NM_001244008.2(KIF1A):c.32G>A (p.Arg11Gln)	KIF1A (R11Q)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +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 30 +5 more	GPathogenic/Likely pathogenic

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Items: 26