ClinVar for Gene (Select 3652) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3286331	NM_005897.3(IPP):c.1237G>A (p.Asp413Asn)	IPP (D413N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286330	NM_005897.3(IPP):c.737T>A (p.Phe246Tyr)	IPP (F246Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286329	NM_005897.3(IPP):c.1319A>G (p.Tyr440Cys)	IPP (Y440C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110376	NM_005897.3(IPP):c.774G>T (p.Glu258Asp)	IPP (E258D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110375	NM_005897.3(IPP):c.720A>G (p.Ile240Met)	IPP (I240M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110374	NM_005897.3(IPP):c.683T>G (p.Phe228Cys)	IPP (F228C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110373	NM_005897.3(IPP):c.611C>T (p.Ala204Val)	IPP (A204V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110371	NM_005897.3(IPP):c.1741G>A (p.Val581Ile)	IPP (V581I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110370	NM_005897.3(IPP):c.1582G>T (p.Val528Phe)	IPP (V528F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110369	NM_005897.3(IPP):c.1556T>C (p.Met519Thr)	IPP (M519T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110368	NM_005897.3(IPP):c.154C>T (p.Arg52Trp)	IPP (R52W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110367	NM_005897.3(IPP):c.131G>A (p.Gly44Glu)	IPP (G44E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110365	NM_005897.3(IPP):c.1280G>A (p.Arg427His)	IPP (R427H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110364	NM_005897.3(IPP):c.103C>T (p.His35Tyr)	IPP (H35Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2601160	NM_005897.3(IPP):c.989A>G (p.His330Arg)	IPP (H330R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588671	NM_005897.3(IPP):c.802G>C (p.Glu268Gln)	IPP (E268Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588670	NM_005897.3(IPP):c.788G>A (p.Cys263Tyr)	IPP (C263Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546270	NM_005897.3(IPP):c.1739G>A (p.Gly580Asp)	IPP (G580D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541974	NM_005897.3(IPP):c.667C>G (p.Leu223Val)	IPP (L223V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540342	NM_005897.3(IPP):c.1684C>T (p.His562Tyr)	IPP (H562Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533714	NM_005897.3(IPP):c.1727G>A (p.Arg576His)	IPP (R576H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508888	NM_005897.3(IPP):c.886T>C (p.Tyr296His)	IPP (Y296H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489465	NM_005897.3(IPP):c.650A>G (p.Lys217Arg)	IPP (K217R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484760	NM_005897.3(IPP):c.1676A>G (p.Tyr559Cys)	IPP (Y559C)	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 2343238	NM_005897.3(IPP):c.1138C>T (p.Arg380Cys)	IPP (R380C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322107	NM_005897.3(IPP):c.1121C>T (p.Ala374Val)	IPP (A374V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281126	NM_005897.3(IPP):c.1183T>A (p.Leu395Met)	IPP (L395M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251724	NM_005897.3(IPP):c.362A>G (p.Glu121Gly)	IPP (E121G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234893	NM_005897.3(IPP):c.608C>G (p.Ala203Gly)	IPP (A203G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224607	NM_005897.3(IPP):c.1220T>C (p.Ile407Thr)	IPP (I407T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808897	GRCh37/hg19 1p34.1(chr1:46171835-46492164)x3	IPP, MAST2	Copy number gain	not provided	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 1526960	GRCh37/hg19 1p34.1(chr1:46083531-46738006)	CCDC17, GPBP1L1 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526949	GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	AGBL4, AKR1A1 +58 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 1340080	GRCh37/hg19 1p34.1(chr1:46098762-46668497)x3	PIK3R3, GPBP1L1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 980383	GRCh37/hg19 1p34.1(chr1:46195374-46533373)x3	IPP, PIK3R3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 811451	NM_005897.3(IPP):c.1411A>G (p.Met471Val)	IPP (M471V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 689330	GRCh37/hg19 1p34.1(chr1:46057301-46552564)x3	CCDC17, GPBP1L1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 687695	GRCh37/hg19 1p34.1(chr1:46104574-46479496)x3	GPBP1L1, IPP +2 more	Copy number gain	not provided	GUncertain significance
Select item 686850	GRCh37/hg19 1p34.1(chr1:46129038-46317936)x3	GPBP1L1, IPP +2 more	Copy number gain	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 549579	NC_000001.11:g.45650769_45929717dup	GPBP1L1, IPP +10 more	Duplication	Primary amenorrhea	GLikely benign
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 441702	GRCh37/hg19 1p34.1(chr1:45715667-46501705)x3	AKR1A1, CCDC17 +11 more	Copy number gain	See cases	GUncertain significance
Select item 394586	GRCh37/hg19 1p34.1(chr1:46126663-46493899)x3	GPBP1L1, IPP +2 more	Copy number gain	See cases	GLikely benign
Select item 394255	GRCh37/hg19 1p34.1(chr1:46078097-46725770)x3	CCDC17, GPBP1L1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 253691	GRCh37/hg19 1p34.1(chr1:46104013-46598046)x3	GPBP1L1, IPP +3 more	Copy number gain	See cases	GUncertain significance
Select item 153233	GRCh38/hg38 1p34.1(chr1:45569797-46183208)x3	AKR1A1, CCDC17 +32 more	Copy number gain	See cases	GUncertain significance
Select item 152740	GRCh38/hg38 1p34.1(chr1:45469848-46220805)x3	AKR1A1, CCDC163 +53 more	Copy number gain	See cases	GLikely benign
Select item 152663	GRCh38/hg38 1p34.1(chr1:45611232-45961272)x3	CCDC17, GPBP1L1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 148588	GRCh38/hg38 1p34.1(chr1:45488251-46220805)x3	AKR1A1, CCDC163 +52 more	Copy number gain	See cases	GUncertain significance
Select item 57383	GRCh38/hg38 1p34.1(chr1:45440264-45869574)x3	AKR1A1, CCDC163 +34 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 57