ClinVar for Gene (Select 11004) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3288617	NM_006845.4(KIF2C):c.1372T>A (p.Ser458Thr)	KIF2C (S404T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288616	NM_006845.4(KIF2C):c.1658T>C (p.Ile553Thr)	KIF2C (I440T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114885	NM_006845.4(KIF2C):c.763G>A (p.Glu255Lys)	KIF2C (E255K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114884	NM_006845.4(KIF2C):c.701G>A (p.Arg234Gln)	KIF2C (R121Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114883	NM_006845.4(KIF2C):c.560C>T (p.Ser187Leu)	KIF2C (S187L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114882	NM_006845.4(KIF2C):c.50T>C (p.Ile17Thr)	KIF2C (I17T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114881	NM_006845.4(KIF2C):c.458C>G (p.Ser153Cys)	KIF2C (S153C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114880	NM_006845.4(KIF2C):c.2167C>T (p.Arg723Trp)	KIF2C (R669W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114879	NM_006845.4(KIF2C):c.2021A>G (p.Tyr674Cys)	KIF2C (Y633C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114878	NM_006845.4(KIF2C):c.1858T>A (p.Leu620Ile)	KIF2C (L507I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114877	NM_006845.4(KIF2C):c.1850C>T (p.Pro617Leu)	KIF2C (P504L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114876	NM_006845.4(KIF2C):c.1667A>T (p.Asn556Ile)	KIF2C (N556I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114874	NM_006845.4(KIF2C):c.1217A>G (p.Asn406Ser)	KIF2C (N293S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114873	NM_006845.4(KIF2C):c.1171C>T (p.Arg391Trp)	KIF2C (R337W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063077	GRCh37/hg19 1p34.1(chr1:44810778-45212378)x3	ARMH1, ERI3 +3 more	Copy number gain	not specified	GUncertain significance
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2638777	NM_006845.4(KIF2C):c.2093G>A (p.Arg698Gln)	KIF2C (R585Q +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2638776	NM_006845.4(KIF2C):c.1930C>T (p.Leu644=)	KIF2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2607100	NM_006845.4(KIF2C):c.1769C>T (p.Pro590Leu)	KIF2C (P536L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544582	NM_006845.4(KIF2C):c.769C>G (p.His257Asp)	KIF2C (H203D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536965	NM_006845.4(KIF2C):c.1519C>T (p.Arg507Trp)	KIF2C (R507W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531729	NM_006845.4(KIF2C):c.337C>T (p.Arg113Cys)	KIF2C (R113C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489468	NM_006845.4(KIF2C):c.278G>A (p.Arg93Gln)	KIF2C (R93Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425557	NC_000001.10:g.(?_44257753)_(46663493_?)dup	AKR1A1, ARMH1 +39 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2408949	NM_006845.4(KIF2C):c.1849C>T (p.Pro617Ser)	KIF2C (P563S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369586	NM_006845.4(KIF2C):c.1519C>G (p.Arg507Gly)	KIF2C (R394G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339049	NM_006845.4(KIF2C):c.341T>C (p.Met114Thr)	KIF2C (M114T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338827	NM_006845.4(KIF2C):c.1219G>A (p.Gly407Arg)	KIF2C (G353R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314460	NM_006845.4(KIF2C):c.1333G>A (p.Val445Ile)	KIF2C (V332I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300703	NM_006845.4(KIF2C):c.1259G>A (p.Arg420His)	KIF2C (R379H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298051	NM_006845.4(KIF2C):c.286G>A (p.Val96Ile)	KIF2C (V96I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265868	NM_006845.4(KIF2C):c.1826C>T (p.Ala609Val)	KIF2C (A496V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234098	NM_006845.4(KIF2C):c.875A>G (p.His292Arg)	KIF2C (H251R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684561	GRCh37/hg19 1p34.1(chr1:44346001-46332161)x3	AKR1A1, ARMH1 +36 more	Copy number gain	See cases	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 814069	GRCh37/hg19 1p34.1(chr1:44810778-45216633)x3	TMEM53, ARMH1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 814068	GRCh37/hg19 1p34.1(chr1:44424878-45207102)x1	IPO13, ERI3 +11 more	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 154514	GRCh38/hg38 1p34.1(chr1:43896056-44867736)x3	ARMH1, ARTN +88 more	Copy number gain	See cases	GUncertain significance
Select item 57429	GRCh38/hg38 1p34.1(chr1:44713837-45282899)x3	ARMH1, BEST4 +39 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 43