KIF3A[gene] - ClinVar

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

Search results

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	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
Select item 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	ACSL6, ACSL6-AS1 +263 more	Copy number loss	See cases	GPathogenic
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 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 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 3288621	NM_001300791.2(KIF3A):c.1849C>A (p.Leu617Ile)	KIF3A (L590I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288620	NM_001300791.2(KIF3A):c.1833G>T (p.Glu611Asp)	KIF3A (E587D +2 more)	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 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 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 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 3033309	NM_001300791.2(KIF3A):c.1300+9T>C	KIF3A	Single nucleotide variant (intron variant)	KIF3A-related disorder	GLikely benign
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 3114889	NM_001300791.2(KIF3A):c.862G>A (p.Val288Ile)	KIF3A (V288I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2536153	NM_001300791.2(KIF3A):c.684A>G (p.Ile228Met)	KIF3A (I228M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048247	NM_001300791.2(KIF3A):c.511-3dup	KIF3A	Duplication (intron variant)	KIF3A-related disorder	GLikely benign
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 3288622	NM_001300791.2(KIF3A):c.410C>T (p.Ala137Val)	KIF3A (A137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288619	NM_001300791.2(KIF3A):c.296A>G (p.Tyr99Cys)	KIF3A (Y99C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3288618	NM_001300791.2(KIF3A):c.74A>G (p.Asn25Ser)	KIF3A (N25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242297	GRCh37/hg19 5q23.2-31.1(chr5:124864529-134720575)x1	FSTL4, GDF9 +63 more	Copy number loss	not provided	GPathogenic
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 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	HARS1, HARS2 +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

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: 39