KIF1C-AS1[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	CAMKK1, CAMTA2 +303 more	Copy number loss	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 146235	GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1	ALOX15, ANKFY1 +166 more	Copy number loss	See cases	GLikely pathogenic
Select item 150854	GRCh38/hg38 17p13.2(chr17:4092608-5354473)x3	ALOX15, ANKFY1 +141 more	Copy number gain	See cases	GLikely benign
Select item 1679759	Single allele	C17orf107, C17orf114 +68 more	Duplication	7p22.1 microduplication syndrome	GUncertain significance
Select item 153248	GRCh38/hg38 17p13.2(chr17:4915519-5197126)x1	CAMTA2, CAMTA2-AS1 +48 more	Copy number loss	See cases	GLikely pathogenic
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 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 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 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 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
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 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 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 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 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

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Items: 26