Related gene-specific medical variations for Gene (Select 102724009) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2647283	NM_006612.6(KIF1C):c.1719G>A (p.Lys573=)	KIF1C, KIF1C-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2047420	NM_006612.6(KIF1C):c.1727C>T (p.Thr576Met)	KIF1C, KIF1C-AS1 +1 more (T576M)	Single nucleotide variant (non-coding transcript variant +1 more)	Spastic ataxia 2	GUncertain significance
Select item 2018652	NM_006612.6(KIF1C):c.1667-8C>G	KIF1C, KIF1C-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Spastic ataxia 2	GLikely benign
Select item 1991602	NM_006612.6(KIF1C):c.1750G>A (p.Gly584Arg)	KIF1C, KIF1C-AS1 +1 more (G584R)	Single nucleotide variant (non-coding transcript variant +1 more)	Spastic ataxia 2	GUncertain significance
Select item 1944805	NM_006612.6(KIF1C):c.1667-12C>T	KIF1C, KIF1C-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Spastic ataxia 2	GLikely benign
Select item 1922287	NM_006612.6(KIF1C):c.1741C>T (p.Leu581=)	KIF1C, KIF1C-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Spastic ataxia 2	GLikely benign
Select item 1335242	NM_006612.6(KIF1C):c.1731G>A (p.Glu577=)	KIF1C, KIF1C-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1306293	NM_006612.6(KIF1C):c.1684C>T (p.Pro562Ser)	KIF1C, KIF1C-AS1 +1 more (P562S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1196048	NM_006612.6(KIF1C):c.1667-99A>G	KIF1C, KIF1C-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 705102	NM_006612.6(KIF1C):c.1750+6_1750+8del	KIF1C, KIF1C-AS1 +1 more	Microsatellite (non-coding transcript variant +1 more)	Spastic ataxia 2 +1 more	GLikely benign
Select item 509262	NM_006612.6(KIF1C):c.1750+5A>C	KIF1C, KIF1C-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 508530	NM_006612.6(KIF1C):c.1704A>T (p.Thr568=)	KIF1C, KIF1C-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign