LOC126862473[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 71

	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 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
Select item 1237107	NM_006612.6(KIF1C):c.1751-30G>A	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 421905	NM_006612.6(KIF1C):c.1751-12_1751-10del	KIF1C, LOC126862473	Microsatellite (intron variant)	Spastic ataxia 2 +1 more	GLikely benign
Select item 385057	NM_006612.6(KIF1C):c.1751-7T>A	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 2071802	NM_006612.6(KIF1C):c.1767G>A (p.Met589Ile)	KIF1C, LOC126862473 (M589I)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GUncertain significance
Select item 2144131	NM_006612.6(KIF1C):c.1779C>T (p.His593=)	KIF1C, LOC126862473	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 2472659	NM_006612.6(KIF1C):c.1780G>A (p.Val594Ile)	KIF1C, LOC126862473 (V594I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1375797	NM_006612.6(KIF1C):c.1794C>A (p.Asn598Lys)	KIF1C, LOC126862473 (N598K)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GUncertain significance
Select item 2140019	NM_006612.6(KIF1C):c.1800G>A (p.Pro600=)	KIF1C, LOC126862473	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 385064	NM_006612.6(KIF1C):c.1815G>A (p.Leu605=)	KIF1C, LOC126862473	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +2 more	GBenign/Likely benign
Select item 2720029	NM_006612.6(KIF1C):c.1819C>T (p.Arg607Trp)	KIF1C, LOC126862473 (R607W)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GLikely benign
Select item 2727548	NM_006612.6(KIF1C):c.1836C>T (p.Pro612=)	KIF1C, LOC126862473	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 3288492	NM_006612.6(KIF1C):c.1838C>A (p.Pro613Gln)	KIF1C, LOC126862473 (P613Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 749667	NM_006612.6(KIF1C):c.1842C>G (p.Pro614=)	KIF1C, LOC126862473	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1344395	NM_006612.6(KIF1C):c.1844C>T (p.Pro615Leu)	KIF1C, LOC126862473 (P615L)	Single nucleotide variant (missense variant)	Spastic ataxia 2 +1 more	GUncertain significance
Select item 657608	NM_006612.6(KIF1C):c.1847G>A (p.Gly616Glu)	KIF1C, LOC126862473 (G616E)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GUncertain significance
Select item 2647284	NM_006612.6(KIF1C):c.1850C>T (p.Pro617Leu)	KIF1C, LOC126862473 (P617L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2048436	NM_006612.6(KIF1C):c.1851G>A (p.Pro617=)	KIF1C, LOC126862473	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 852848	NM_006612.6(KIF1C):c.1852C>T (p.Pro618Ser)	KIF1C, LOC126862473 (P618S)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GUncertain significance
Select item 1980448	NM_006612.6(KIF1C):c.1866C>T (p.Val622=)	KIF1C, LOC126862473	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 2647285	NM_006612.6(KIF1C):c.1893G>T (p.Leu631=)	KIF1C, LOC126862473	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2049076	NM_006612.6(KIF1C):c.1937+4C>T	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	Spastic ataxia 2	GUncertain significance
Select item 1344396	NM_006612.6(KIF1C):c.1937+5G>A	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	Spastic ataxia 2 +1 more	GUncertain significance
Select item 381280	NM_006612.6(KIF1C):c.1937+11G>T	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	Spastic ataxia 2 +2 more	GBenign
Select item 512495	NM_006612.6(KIF1C):c.1937+14A>C	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 518111	NM_006612.6(KIF1C):c.1937+19C>T	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 1920988	NM_006612.6(KIF1C):c.1937+20G>A	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 1243318	NM_006612.6(KIF1C):c.1937+32C>T	LOC126862473, KIF1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2157349	NM_006612.6(KIF1C):c.1938-14C>T	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 2066273	NM_006612.6(KIF1C):c.1938-13del	KIF1C, LOC126862473	Deletion (intron variant)	Spastic ataxia 2	GLikely benign
Select item 1344397	NM_006612.6(KIF1C):c.1938-5C>G	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 380828	NM_006612.6(KIF1C):c.1938-4C>G	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	Spastic ataxia 2 +2 more	GBenign
Select item 1442634	NM_006612.6(KIF1C):c.1938G>A (p.Arg646=)	KIF1C, LOC126862473	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GUncertain significance
Select item 1176653	NM_006612.6(KIF1C):c.1959G>A (p.Gln653=)	KIF1C, LOC126862473	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 705594	NM_006612.6(KIF1C):c.1962C>T (p.Tyr654=)	KIF1C, LOC126862473	Single nucleotide variant (synonymous variant)	Spastic ataxia 2	GLikely benign
Select item 1969617	NM_006612.6(KIF1C):c.1963C>T (p.Arg655Trp)	KIF1C, LOC126862473 (R655W)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GUncertain significance
Select item 2570968	NM_006612.6(KIF1C):c.1964G>A (p.Arg655Gln)	KIF1C, LOC126862473 (R655Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3114583	NM_006612.6(KIF1C):c.1984G>C (p.Asp662His)	KIF1C, LOC126862473 (D662H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2079959	NM_006612.6(KIF1C):c.1984G>A (p.Asp662Asn)	KIF1C, LOC126862473 (D662N)	Single nucleotide variant (missense variant)	Spastic ataxia 2	GUncertain significance
Select item 1180686	NM_006612.6(KIF1C):c.1996G>T (p.Glu666Ter)	KIF1C, LOC126862473 (E666*)	Single nucleotide variant (nonsense)	Abnormal central motor function	GPathogenic
Select item 2412751	NM_006612.6(KIF1C):c.2005C>T (p.Arg669Ter)	KIF1C, LOC126862473 (R669*)	Single nucleotide variant (nonsense)	Spastic ataxia 2	GLikely pathogenic
Select item 916438	NM_006612.6(KIF1C):c.2006G>A (p.Arg669Gln)	KIF1C, LOC126862473 (R669Q)	Single nucleotide variant (missense variant)	Spastic ataxia 2 +1 more	GUncertain significance
Select item 2149992	NM_006612.6(KIF1C):c.2010+4A>C	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	Spastic ataxia 2	GUncertain significance
Select item 1900638	NM_006612.6(KIF1C):c.2010+8G>A	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	Spastic ataxia 2	GLikely benign
Select item 1202414	NM_006612.6(KIF1C):c.2010+22G>A	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287288	NM_006612.6(KIF1C):c.2010+124A>G	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262363	NM_006612.6(KIF1C):c.2010+160A>G	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 71