ABRAXAS2[gene] - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC130004884, LOC130004885 +438 more	Copy number gain	See cases	GPathogenic
Select item 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	LOC130004881, LOC130004882 +418 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130005014, LOC130005015 +409 more	Copy number loss	See cases	GPathogenic
Select item 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	FUOM, GLRX3 +399 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC130004911, LOC130004912 +395 more	Copy number loss	See cases	GPathogenic
Select item 57376	GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1	ABRAXAS2, ACADSB +383 more	Copy number loss	See cases	GPathogenic
Select item 58820	GRCh38/hg38 10q26.13-26.2(chr10:122826743-126730948)x1	ABRAXAS2, ACADSB +164 more	Copy number loss	See cases	GPathogenic
Select item 149417	GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1	LOC130004994, LOC130004995 +361 more	Copy number loss	See cases	GPathogenic
Select item 58821	GRCh38/hg38 10q26.13-26.2(chr10:122973296-128210291)x1	ABRAXAS2, ACADSB +182 more	Copy number loss	See cases	GPathogenic
Select item 57447	GRCh38/hg38 10q26.13-26.3(chr10:123307835-133620674)x1	ABRAXAS2, ADAM12 +331 more	Copy number loss	See cases	GPathogenic
Select item 155477	GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 58822	GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 155556	GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1	ABRAXAS2, ADAM12 +311 more	Copy number loss	See cases	GPathogenic
Select item 147735	GRCh38/hg38 10q26.13-26.2(chr10:124032888-127368827)x3	ABRAXAS2, ADAM12 +117 more	Copy number gain	See cases	GPathogenic
Select item 146789	GRCh38/hg38 10q26.13-26.3(chr10:124473108-133620609)x1	ABRAXAS2, ADAM12 +297 more	Copy number loss	See cases	GPathogenic
Select item 2550275	NM_032182.4(ABRAXAS2):c.61A>C (p.Asn21His)	ABRAXAS2 (N21H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132634	NM_032182.4(ABRAXAS2):c.214G>A (p.Ala72Thr)	ABRAXAS2 (A72T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530567	NM_032182.4(ABRAXAS2):c.295C>T (p.Arg99Cys)	ABRAXAS2 (R99C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132637	NM_032182.4(ABRAXAS2):c.313A>T (p.Met105Leu)	ABRAXAS2 (M105L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475307	NM_032182.4(ABRAXAS2):c.349A>T (p.Thr117Ser)	ABRAXAS2 (T117S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132641	NM_032182.4(ABRAXAS2):c.361G>A (p.Gly121Ser)	ABRAXAS2 (G121S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132649	NM_032182.4(ABRAXAS2):c.364G>A (p.Val122Met)	ABRAXAS2 (V122M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132654	NM_032182.4(ABRAXAS2):c.481G>T (p.Ala161Ser)	ABRAXAS2 (A161S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132656	NM_032182.4(ABRAXAS2):c.482C>A (p.Ala161Asp)	ABRAXAS2 (A161D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132661	NM_032182.4(ABRAXAS2):c.622G>A (p.Ala208Thr)	ABRAXAS2 (A208T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557424	NM_032182.4(ABRAXAS2):c.656A>C (p.Lys219Thr)	ABRAXAS2 (K219T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527449	NM_032182.4(ABRAXAS2):c.667G>A (p.Val223Met)	ABRAXAS2 (V223M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611569	NM_032182.4(ABRAXAS2):c.720A>T (p.Glu240Asp)	ABRAXAS2 (E240D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132672	NM_032182.4(ABRAXAS2):c.800G>C (p.Ser267Thr)	ABRAXAS2 (S267T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132676	NM_032182.4(ABRAXAS2):c.851C>T (p.Pro284Leu)	ABRAXAS2 (P284L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458327	NM_032182.4(ABRAXAS2):c.913C>T (p.Pro305Ser)	ABRAXAS2 (P305S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560726	NM_032182.4(ABRAXAS2):c.958T>G (p.Leu320Val)	ABRAXAS2 (L320V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132685	NM_032182.4(ABRAXAS2):c.976G>A (p.Glu326Lys)	ABRAXAS2 (E326K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132614	NM_032182.4(ABRAXAS2):c.1004A>C (p.Gln335Pro)	ABRAXAS2 (Q335P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604609	NM_032182.4(ABRAXAS2):c.1100A>C (p.Asp367Ala)	ABRAXAS2 (D367A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132620	NM_032182.4(ABRAXAS2):c.1122C>A (p.Asp374Glu)	ABRAXAS2 (D374E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 148580	GRCh38/hg38 10q26.13-26.3(chr10:124834858-133622588)x1	LOC130005026, LOC130005027 +257 more	Copy number loss	See cases	GPathogenic
Select item 2557423	NM_032182.4(ABRAXAS2):c.1140G>C (p.Leu380Phe)	ABRAXAS2 (L380F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590724	NM_032182.4(ABRAXAS2):c.1193G>A (p.Arg398Gln)	ABRAXAS2 (R398Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132628	NM_032182.4(ABRAXAS2):c.1216G>A (p.Asp406Asn)	ABRAXAS2 (D406N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148924	GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 3063175	GRCh37/hg19 10q26.13-26.3(chr10:125987494-135427143)x1	ABRAXAS2, ADAM12 +55 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063149	GRCh37/hg19 10q26.13-26.3(chr10:126127397-135427143)x1	ABRAXAS2, ADAM12 +54 more	Copy number loss	not specified	GPathogenic
Select item 2684625	GRCh37/hg19 10q26.13(chr10:126207920-126513550)x3	ABRAXAS2, EEF1AKMT2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2580338	GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1	ABRAXAS2, ADAM12 +62 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574693	GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143)	ABRAXAS2, ACADSB +77 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 1527611	GRCh37/hg19 10q26.13(chr10:125920216-126732932)	ABRAXAS2, CTBP2 +6 more	Copy number loss	not specified	GUncertain significance
Select item 1527609	GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)	FAM24A, FAM24B +80 more	Copy number loss	not specified	GPathogenic
Select item 1527608	GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)	ABRAXAS2, ACADSB +68 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic
Select item 1172570	GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1	FANK1, FGFR2 +79 more	Copy number loss	See cases	GPathogenic
Select item 815379	GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3	FGFR2, FOXI2 +95 more	Copy number gain	not provided	GPathogenic
Select item 688100	GRCh37/hg19 10q26.13-26.3(chr10:124988334-135427143)x3	ABRAXAS2, ADAM12 +58 more	Copy number gain	not provided	GPathogenic
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 563799	GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3	ABRAXAS2, ACADSB +86 more	Copy number gain	not provided	GPathogenic
Select item 563798	GRCh37/hg19 10q26.12-26.3(chr10:122509781-135427143)x1	ABRAXAS2, ACADSB +79 more	Copy number loss	not provided	GPathogenic
Select item 563797	GRCh37/hg19 10q26.12-26.3(chr10:123019239-135427143)x1	ABRAXAS2, ACADSB +78 more	Copy number loss	not provided	GPathogenic
Select item 563796	GRCh37/hg19 10q26.13-26.3(chr10:125450893-135427143)x1	ABRAXAS2, ADAM12 +58 more	Copy number loss	not provided	GPathogenic
Select item 563745	GRCh37/hg19 10q26.13(chr10:126319221-126733607)x3	ABRAXAS2, CTBP2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 395627	GRCh37/hg19 10q26.13-26.3(chr10:124147428-135370736)x1	ABRAXAS2, ACADSB +73 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic
Select item 253439	GRCh37/hg19 10q26.12-26.2(chr10:122239239-128203032)x1	C10orf90, CHST15 +40 more	Copy number loss	See cases	GPathogenic
Select item 219035	GRCh37/hg19 10q26.13-26.3(chr10:123731209-135353867)x1	ACADSB, ADAM12 +75 more	Copy number loss	See cases	GPathogenic

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Items: 84