ClinVar for Gene (Select 126626) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280390	NM_144618.3(GABPB2):c.5C>A (p.Ser2Tyr)	GABPB2 (S2Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280389	NM_144618.3(GABPB2):c.358G>A (p.Val120Ile)	GABPB2 (V64I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280387	NM_144618.3(GABPB2):c.1012A>T (p.Ile338Leu)	GABPB2 (I282L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280386	NM_144618.3(GABPB2):c.100A>G (p.Thr34Ala)	GABPB2 (T34A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280385	NM_144618.3(GABPB2):c.256A>G (p.Ile86Val)	GABPB2 (I102V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097809	NM_144618.3(GABPB2):c.851A>G (p.Asn284Ser)	GABPB2 (N284S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097808	NM_144618.3(GABPB2):c.841C>T (p.Pro281Ser)	GABPB2 (P225S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097807	NM_144618.3(GABPB2):c.661A>G (p.Thr221Ala)	GABPB2 (T165A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097806	NM_144618.3(GABPB2):c.635C>T (p.Ala212Val)	GABPB2 (A156V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097805	NM_144618.3(GABPB2):c.473A>G (p.Glu158Gly)	GABPB2 (E118G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097804	NM_144618.3(GABPB2):c.413A>G (p.Lys138Arg)	GABPB2 (K82R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097803	NM_144618.3(GABPB2):c.308T>A (p.Leu103Gln)	GABPB2 (L119Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097802	NM_144618.3(GABPB2):c.251C>T (p.Ala84Val)	GABPB2 (A100V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097800	NM_144618.3(GABPB2):c.241G>A (p.Asp81Asn)	GABPB2 (D81N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 2596614	NM_144618.3(GABPB2):c.878G>A (p.Gly293Asp)	GABPB2 (G199D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592337	NM_144618.3(GABPB2):c.596C>G (p.Ser199Cys)	GABPB2 (S143C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2516033	NM_144618.3(GABPB2):c.205A>G (p.Lys69Glu)	GABPB2 (K85E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514842	NM_144618.3(GABPB2):c.1042A>G (p.Ser348Gly)	GABPB2 (S270G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394245	NM_144618.3(GABPB2):c.1208C>T (p.Thr403Ile)	GABPB2 (T309I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387424	NM_144618.3(GABPB2):c.776C>T (p.Ser259Leu)	GABPB2 (S203L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373676	NM_144618.3(GABPB2):c.341G>A (p.Arg114His)	GABPB2 (R114H +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2370253	NM_144618.3(GABPB2):c.1169A>C (p.Glu390Ala)	GABPB2 (E352A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333004	NM_144618.3(GABPB2):c.482A>G (p.Gln161Arg)	GABPB2 (Q121R +3 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2269642	NM_144618.3(GABPB2):c.574G>A (p.Val192Ile)	GABPB2 (V136I +3 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2240364	NM_144618.3(GABPB2):c.176G>A (p.Arg59Gln)	GABPB2 (R59Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223638	NM_144618.3(GABPB2):c.814G>A (p.Val272Ile)	GABPB2 (V178I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207389	NM_144618.3(GABPB2):c.1193A>G (p.Asn398Ser)	GABPB2 (N320S +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	CRTC2, KHDC4 +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +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)	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 393719	GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3	ACP6, ADAMTSL4 +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
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 150034	GRCh38/hg38 1q21.3(chr1:150989333-151584777)x1	ANXA9, BNIPL +59 more	Copy number loss	See cases	GLikely pathogenic

ClinVar

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Links from Gene

Items: 42