GPBP1[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 144590	GRCh38/hg38 5q11.2-12.1(chr5:56947850-61725401)x3	ACTBL2, DEPDC1B +105 more	Copy number gain	See cases	GPathogenic
Select item 2596699	NM_022913.4(GPBP1):c.49C>G (p.Pro17Ala)	GPBP1 (P17A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458209	NM_022913.4(GPBP1):c.116G>A (p.Arg39His)	GPBP1 (R39H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101210	NM_022913.4(GPBP1):c.175C>T (p.Arg59Cys)	GPBP1 (R66C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101211	NM_022913.4(GPBP1):c.332A>C (p.His111Pro)	GPBP1 (H111P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617369	NM_022913.4(GPBP1):c.463G>A (p.Ala155Thr)	GPBP1 (A162T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534811	NM_022913.4(GPBP1):c.467C>A (p.Ala156Glu)	GPBP1 (A156E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310487	NM_022913.4(GPBP1):c.566C>T (p.Pro189Leu)	GPBP1 (P209L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372163	NM_022913.4(GPBP1):c.584C>T (p.Pro195Leu)	GPBP1 (P195L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328200	NM_022913.4(GPBP1):c.613C>G (p.Pro205Ala)	GPBP1 (P225A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544670	NM_022913.4(GPBP1):c.625A>G (p.Lys209Glu)	GPBP1 (K216E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324375	NM_022913.4(GPBP1):c.691G>A (p.Glu231Lys)	GPBP1 (E238K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303566	NM_022913.4(GPBP1):c.736G>A (p.Val246Ile)	GPBP1 (V253I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389926	NM_022913.4(GPBP1):c.797T>G (p.Val266Gly)	GPBP1 (V266G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101212	NM_022913.4(GPBP1):c.837C>G (p.Asp279Glu)	GPBP1 (D108E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465571	NM_022913.4(GPBP1):c.932A>G (p.Glu311Gly)	GPBP1 (E331G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344307	NM_022913.4(GPBP1):c.955C>T (p.Arg319Cys)	GPBP1 (R148C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101213	NM_022913.4(GPBP1):c.956G>C (p.Arg319Pro)	GPBP1 (R319P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101208	NM_022913.4(GPBP1):c.1046A>C (p.Glu349Ala)	GPBP1 (E341A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569648	NM_022913.4(GPBP1):c.1073A>G (p.Asn358Ser)	GPBP1 (N350S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392464	NM_022913.4(GPBP1):c.1111A>G (p.Thr371Ala)	GPBP1 (T371A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591728	NM_022913.4(GPBP1):c.1286A>G (p.Lys429Arg)	GPBP1 (K258R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268371	NM_022913.4(GPBP1):c.1334C>T (p.Pro445Leu)	GPBP1 (P437L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101209	NM_022913.4(GPBP1):c.1356A>C (p.Lys452Asn)	GPBP1 (K444N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282100	NM_022913.4(GPBP1):c.1391G>T (p.Ser464Ile)	GPBP1 (S293I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062842	GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1	ACTBL2, ANKRD55 +35 more	Copy number loss	not specified	GLikely pathogenic
Select item 814687	GRCh37/hg19 5q11.2(chr5:56326395-56644338)x3	GPBP1	Copy number gain	not provided	GLikely benign
Select item 685431	GRCh37/hg19 5q11.2(chr5:56283070-58079028)x1	ACTBL2, GAPT +3 more	Copy number loss	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
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 394104	GRCh37/hg19 5q11.2(chr5:56107595-56694985)x1	GPBP1, MAP3K1 +2 more	Copy number loss	See cases	GUncertain significance

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Items: 36