ClinVar for Gene (Select 11127) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3114889	NM_001300791.2(KIF3A):c.862G>A (p.Val288Ile)	KIF3A (V288I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114888	NM_001300791.2(KIF3A):c.496A>G (p.Thr166Ala)	KIF3A (T166A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114886	NM_001300791.2(KIF3A):c.1490A>G (p.Glu497Gly)	KIF3A (E470G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057456	NM_001300791.2(KIF3A):c.1467-8A>T	KIF3A	Single nucleotide variant (intron variant)	KIF3A-related disorder	GLikely benign
Select item 3048247	NM_001300791.2(KIF3A):c.511-3dup	KIF3A	Duplication (intron variant)	KIF3A-related disorder	GLikely benign
Select item 3033309	NM_001300791.2(KIF3A):c.1300+9T>C	KIF3A	Single nucleotide variant (intron variant)	KIF3A-related disorder	GLikely benign
Select item 2615687	NM_001300791.2(KIF3A):c.148A>G (p.Lys50Glu)	KIF3A (K50E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536153	NM_001300791.2(KIF3A):c.684A>G (p.Ile228Met)	KIF3A (I228M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534060	NM_001300791.2(KIF3A):c.1828C>T (p.Arg610Trp)	KIF3A (R586W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528407	NM_001300791.2(KIF3A):c.1565A>C (p.Lys522Thr)	KIF3A (K522T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506534	GRCh37/hg19 5q23.3-31.1(chr5:127800418-134002686)	ACSL6, ADAMTS19 +44 more	Copy number loss	Houge-Janssens syndrome 3	GPathogenic
Select item 2492801	NM_001300791.2(KIF3A):c.1492A>G (p.Lys498Glu)	KIF3A (K474E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368786	NM_001300791.2(KIF3A):c.1445A>T (p.Glu482Val)	KIF3A (E455V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358007	NM_001300791.2(KIF3A):c.2138G>A (p.Arg713His)	KIF3A (R689H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331718	NM_001300791.2(KIF3A):c.1060G>T (p.Asp354Tyr)	KIF3A (D354Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319353	NM_001300791.2(KIF3A):c.1874G>A (p.Arg625Gln)	KIF3A (R625Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2310029	NM_001300791.2(KIF3A):c.715A>T (p.Met239Leu)	KIF3A (M239L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251578	NM_001300791.2(KIF3A):c.1888A>G (p.Met630Val)	KIF3A (M630V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527198	GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639)	AFF4, BRD8 +53 more	Copy number loss	not specified	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 624508	GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1	ACSL6, ADAMTS19 +68 more	Copy number loss	not provided	GLikely pathogenic
Select item 559504	GRCh37/hg19 5q31.1(chr5:131484039-132998360)x3	SLC22A4, LEAP2 +19 more	Copy number gain	Blepharophimosis +5 more	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARB2A, ARHGAP26 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	ACSL6, ACSL6-AS1 +263 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58356	GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1	LOC129994513, LOC129994514 +200 more	Copy number loss	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 33