ClinVar for Gene (Select 60313) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282107	NM_021639.5(GPBP1L1):c.662A>G (p.His221Arg)	GPBP1L1 (H221R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282106	NM_021639.5(GPBP1L1):c.535C>T (p.Pro179Ser)	GPBP1L1 (P179S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282105	NM_021639.5(GPBP1L1):c.698G>C (p.Ser233Thr)	GPBP1L1 (S233T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282104	NM_021639.5(GPBP1L1):c.1259T>C (p.Met420Thr)	GPBP1L1 (M420T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282103	NM_021639.5(GPBP1L1):c.911T>C (p.Ile304Thr)	GPBP1L1 (I304T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282102	NM_021639.5(GPBP1L1):c.608A>G (p.Lys203Arg)	GPBP1L1 (K203R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282101	NM_021639.5(GPBP1L1):c.444G>C (p.Lys148Asn)	GPBP1L1 (K148N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101220	NM_021639.5(GPBP1L1):c.860G>A (p.Gly287Asp)	GPBP1L1 (G287D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101219	NM_021639.5(GPBP1L1):c.697A>G (p.Ser233Gly)	GPBP1L1 (S233G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101218	NM_021639.5(GPBP1L1):c.688G>A (p.Val230Met)	GPBP1L1 (V230M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3101217	NM_021639.5(GPBP1L1):c.380G>A (p.Arg127Gln)	GPBP1L1 (R127Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101216	NM_021639.5(GPBP1L1):c.302G>T (p.Arg101Leu)	GPBP1L1 (R101L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101215	NM_021639.5(GPBP1L1):c.1228C>A (p.Leu410Ile)	GPBP1L1 (L410I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101214	NM_021639.5(GPBP1L1):c.1027T>C (p.Cys343Arg)	GPBP1L1 (C343R)	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 2623783	NM_021639.5(GPBP1L1):c.70G>A (p.Ala24Thr)	GPBP1L1 (A24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594766	NM_021639.5(GPBP1L1):c.95A>T (p.His32Leu)	GPBP1L1 (H32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532099	NM_021639.5(GPBP1L1):c.889C>G (p.Pro297Ala)	GPBP1L1 (P297A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483345	NM_021639.5(GPBP1L1):c.353G>A (p.Arg118His)	GPBP1L1 (R118H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2463380	NM_021639.5(GPBP1L1):c.382A>G (p.Lys128Glu)	GPBP1L1 (K128E)	Single nucleotide variant (missense variant)	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 2399806	NM_021639.5(GPBP1L1):c.1114C>T (p.Leu372Phe)	GPBP1L1 (L372F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396532	NM_021639.5(GPBP1L1):c.325C>T (p.Arg109Cys)	GPBP1L1 (R109C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391636	NM_021639.5(GPBP1L1):c.179G>A (p.Arg60Gln)	GPBP1L1 (R60Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383681	NM_021639.5(GPBP1L1):c.1238A>G (p.Asp413Gly)	GPBP1L1 (D413G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378750	NM_021639.5(GPBP1L1):c.1226C>T (p.Pro409Leu)	GPBP1L1 (P409L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376205	NM_021639.5(GPBP1L1):c.1051G>A (p.Asp351Asn)	GPBP1L1 (D351N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354769	NM_021639.5(GPBP1L1):c.716T>C (p.Val239Ala)	GPBP1L1 (V239A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341588	NM_021639.5(GPBP1L1):c.162T>A (p.Phe54Leu)	GPBP1L1 (F54L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211420	NM_021639.5(GPBP1L1):c.527T>C (p.Ile176Thr)	GPBP1L1 (I176T)	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 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 980384	GRCh37/hg19 1p34.1(chr1:46044043-46096146)x1	NASP, CCDC17 +1 more	Copy number loss	not provided	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 253787	GRCh37/hg19 1p34.1(chr1:45953923-46126722)x3	AKR1A1, CCDC17 +5 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

ClinVar

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Links from Gene

Items: 54