C3280168[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1032199	NM_001244008.2(KIF1A):c.5350AGG[1] (p.Arg1785del)	KIF1A (R1701del +15 more)	Microsatellite (inframe_deletion)	Intellectual disability, autosomal dominant 9 +3 more	GUncertain significance
Select item 1010452	NM_001244008.2(KIF1A):c.4999G>A (p.Asp1667Asn)	KIF1A (D1565N +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +3 more	GConflicting classifications of pathogenicity
Select item 949977	NM_001244008.2(KIF1A):c.4975G>A (p.Glu1659Lys)	KIF1A (E1566K +14 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 532868	NM_001244008.2(KIF1A):c.4909G>A (p.Glu1637Lys)	KIF1A (E1637K +14 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +5 more	GConflicting classifications of pathogenicity
Select item 1030767	NM_001244008.2(KIF1A):c.4805C>G (p.Thr1602Ser)	KIF1A (T1501S +14 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9 +2 more	GUncertain significance
Select item 845244	NM_001244008.2(KIF1A):c.4753A>T (p.Met1585Leu)	KIF1A (M1484L +14 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +2 more	GConflicting classifications of pathogenicity
Select item 435633	NM_001244008.2(KIF1A):c.4217G>A (p.Arg1406His)	KIF1A (R1305H +14 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1030765	NM_001244008.2(KIF1A):c.4046T>C (p.Met1349Thr)	KIF1A (M1257T +14 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9 +2 more	GUncertain significance
Select item 245695	NM_001244008.2(KIF1A):c.3979G>A (p.Gly1327Arg)	KIF1A (G1226R +9 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1032197	NM_001244008.2(KIF1A):c.2978-14T>G	KIF1A	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 9 +2 more	GUncertain significance
Select item 2032666	NM_001244008.2(KIF1A):c.2445-3del	KIF1A	Deletion (intron variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 579667	NM_001244008.2(KIF1A):c.2213A>G (p.Asn738Ser)	KIF1A (N738S +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9 +2 more	GUncertain significance
Select item 1522313	NM_001244008.2(KIF1A):c.2022+3G>A	KIF1A	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 9 +2 more	GUncertain significance
Select item 1032196	NM_001244008.2(KIF1A):c.1267G>A (p.Ala423Thr)	KIF1A (A439T +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9 +2 more	GConflicting classifications of pathogenicity
Select item 245928	NM_001244008.2(KIF1A):c.1040A>G (p.Tyr347Cys)	KIF1A (Y347C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 373642	NM_001244008.2(KIF1A):c.947G>A (p.Arg316Gln)	KIF1A (R316Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +4 more	GConflicting classifications of pathogenicity
Select item 162060	NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp)	KIF1A (R316W)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +6 more	GPathogenic/Likely pathogenic
Select item 234325	NM_001244008.2(KIF1A):c.850G>A (p.Ala284Thr)	KIF1A (A284T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
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 208160	NM_001244008.2(KIF1A):c.646C>T (p.Arg216Cys)	KIF1A (R216C)	Single nucleotide variant (missense variant)	Syndromic intellectual disability +6 more	GPathogenic/Likely pathogenic
Select item 1032198	NM_001244008.2(KIF1A):c.482A>T (p.Lys161Met)	KIF1A (K161M)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9 +2 more	GUncertain significance
Select item 1030764	NM_001244008.2(KIF1A):c.364-3C>A	KIF1A	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 9 +2 more	GUncertain significance
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 1030762	NM_001244008.2(KIF1A):c.194T>C (p.Ile65Thr)	KIF1A (I65T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9 +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
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

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Items: 26