GABPB2[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 150034	GRCh38/hg38 1q21.3(chr1:150989333-151584777)x1	GABPB2, LOC112577493 +59 more	Copy number loss	See cases	GLikely pathogenic
Select item 2240364	NM_144618.3(GABPB2):c.176G>A (p.Arg59Gln)	GABPB2 (R59Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327353	NM_144618.3(GABPB2):c.188G>T (p.Ser63Ile)	GABPB2 (S63I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2516033	NM_144618.3(GABPB2):c.205A>G (p.Lys69Glu)	GABPB2 (K85E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2244760	NM_144618.3(GABPB2):c.220C>T (p.Pro74Ser)	GABPB2 (P74S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373676	NM_144618.3(GABPB2):c.341G>A (p.Arg114His)	GABPB2 (R114H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2333004	NM_144618.3(GABPB2):c.482A>G (p.Gln161Arg)	GABPB2 (Q121R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269642	NM_144618.3(GABPB2):c.574G>A (p.Val192Ile)	GABPB2 (V136I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592337	NM_144618.3(GABPB2):c.596C>G (p.Ser199Cys)	GABPB2 (S143C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387424	NM_144618.3(GABPB2):c.776C>T (p.Ser259Leu)	GABPB2 (S203L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223638	NM_144618.3(GABPB2):c.814G>A (p.Val272Ile)	GABPB2 (V178I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596614	NM_144618.3(GABPB2):c.878G>A (p.Gly293Asp)	GABPB2 (G199D +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514842	NM_144618.3(GABPB2):c.1042A>G (p.Ser348Gly)	GABPB2 (S270G +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370253	NM_144618.3(GABPB2):c.1169A>C (p.Glu390Ala)	GABPB2 (E352A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207389	NM_144618.3(GABPB2):c.1193A>G (p.Asn398Ser)	GABPB2 (N320S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2394245	NM_144618.3(GABPB2):c.1208C>T (p.Thr403Ile)	GABPB2 (T309I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283062	NM_144618.3(GABPB2):c.1343C>T (p.Ser448Phe)	GABPB2 (S392F +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	CREB3L4, CRNN +228 more	Duplication	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 565180	GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3	LCE2A, S100A2 +125 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 393719	GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3	FMO5, GABPB2 +103 more	Copy number gain	See cases	GPathogenic
Select item 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic

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Items: 28