"GeneDx"[submitter] AND "ABRAXAS1"[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 151718	GRCh38/hg38 4q21.21-21.3(chr4:80043949-86948317)x1	ABRAXAS1, AFF1 +146 more	Copy number loss	See cases	GPathogenic
Select item 1272768	NM_139076.3(ABRAXAS1):c.*249del	ABRAXAS1, MRPS18C	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 128217	NM_139076.3(ABRAXAS1):c.1139A>G (p.Asp380Gly)	ABRAXAS1 (D380G +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 416703	NM_139076.3(ABRAXAS1):c.1117G>A (p.Asp373Asn)	ABRAXAS1 (D373N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 128216	NM_139076.3(ABRAXAS1):c.1108T>A (p.Ser370Thr)	ABRAXAS1 (S370T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1166234	NM_139076.3(ABRAXAS1):c.1042G>A (p.Ala348Thr)	ABRAXAS1 (A239T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 416708	NM_139076.3(ABRAXAS1):c.951C>T (p.Leu317=)	ABRAXAS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 128229	NM_139076.3(ABRAXAS1):c.915T>A (p.His305Gln)	ABRAXAS1 (H305Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128228	NM_139076.3(ABRAXAS1):c.853C>T (p.Arg285Trp)	ABRAXAS1 (R285W +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 128227	NM_139076.3(ABRAXAS1):c.836T>G (p.Phe279Cys)	ABRAXAS1 (F279C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 128226	NM_139076.3(ABRAXAS1):c.833T>C (p.Ile278Thr)	ABRAXAS1 (I278T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1247903	NM_139076.3(ABRAXAS1):c.796+235C>G	ABRAXAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 128225	NM_139076.3(ABRAXAS1):c.755G>A (p.Arg252Gln)	ABRAXAS1 (R252Q +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 128224	NM_139076.3(ABRAXAS1):c.682-13_682-9del	ABRAXAS1	Deletion (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1297396	NM_139076.3(ABRAXAS1):c.682-93A>C	ABRAXAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183566	NM_139076.3(ABRAXAS1):c.682-107T>G	ABRAXAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221061	NM_139076.3(ABRAXAS1):c.682-234G>A	ABRAXAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278344	NM_139076.3(ABRAXAS1):c.682-306C>T	ABRAXAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263648	NM_139076.3(ABRAXAS1):c.681+215T>C	ABRAXAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178226	NM_139076.3(ABRAXAS1):c.681+132G>A	ABRAXAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297389	NM_139076.3(ABRAXAS1):c.597-66_597-63del	ABRAXAS1	Deletion (intron variant)	not provided	GBenign
Select item 1271678	NM_139076.3(ABRAXAS1):c.597-70_597-67del	ABRAXAS1	Deletion (intron variant)	not provided	GBenign
Select item 1272780	NM_139076.3(ABRAXAS1):c.597-224G>A	ABRAXAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263367	NM_139076.3(ABRAXAS1):c.596+97T>C	ABRAXAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 128223	NM_139076.3(ABRAXAS1):c.518T>C (p.Met173Thr)	ABRAXAS1 (M173T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1234342	NM_139076.3(ABRAXAS1):c.477-180_477-179dup	ABRAXAS1	Duplication (intron variant)	not provided	GBenign
Select item 1263415	NM_139076.3(ABRAXAS1):c.477-259C>T	ABRAXAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257936	NM_139076.3(ABRAXAS1):c.476+264C>G	ABRAXAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 182462	NM_139076.3(ABRAXAS1):c.476+18A>T	ABRAXAS1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 128222	NM_139076.3(ABRAXAS1):c.422C>T (p.Thr141Ile)	ABRAXAS1 (T141I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 128220	NM_139076.3(ABRAXAS1):c.364C>G (p.Gln122Glu)	ABRAXAS1 (Q122E +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 223795	NM_139076.3(ABRAXAS1):c.283-108C>T	ABRAXAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262654	NM_139076.3(ABRAXAS1):c.282+131A>T	ABRAXAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 128219	NM_139076.3(ABRAXAS1):c.233G>A (p.Gly78Asp)	ABRAXAS1 (G78D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1249563	NM_139076.3(ABRAXAS1):c.216-34G>A	ABRAXAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233145	NM_139076.3(ABRAXAS1):c.216-44T>C	ABRAXAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254405	NM_139076.3(ABRAXAS1):c.215+206T>G	ABRAXAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280562	NM_139076.3(ABRAXAS1):c.215+176C>T	ABRAXAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223979	NM_139076.3(ABRAXAS1):c.179-37_179-33del	ABRAXAS1	Deletion (intron variant)	not provided	GBenign
Select item 1290210	NM_139076.3(ABRAXAS1):c.179-245G>A	ABRAXAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180224	NM_139076.3(ABRAXAS1):c.178+129C>A	ABRAXAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 128218	NM_139076.3(ABRAXAS1):c.125A>G (p.Lys42Arg)	ABRAXAS1 (K42R)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1297390	NM_139076.3(ABRAXAS1):c.88-94_88-93insC	ABRAXAS1	Insertion (intron variant)	not provided	GBenign
Select item 1291070	NM_139076.3(ABRAXAS1):c.88-95_88-94insC	ABRAXAS1	Insertion (intron variant)	not provided	GBenign
Select item 1249152	NM_139076.3(ABRAXAS1):c.87+48_87+49insC	ABRAXAS1, LOC129992784	Insertion (intron variant)	not provided	GBenign
Select item 1243768	NM_139076.3(ABRAXAS1):c.87+45dup	ABRAXAS1, LOC129992784	Duplication (intron variant)	not provided	GBenign
Select item 182464	NM_139076.3(ABRAXAS1):c.33G>C (p.Ser11=)	ABRAXAS1, LOC129992784	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 416711	NM_139076.3(ABRAXAS1):c.21G>A (p.Ser7=)	ABRAXAS1, LOC129992784	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 182463	NM_139076.3(ABRAXAS1):c.-4T>C	ABRAXAS1, LOC129992784	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign/Likely benign
Select item 1278316	NC_000004.12:g.83485123G>C	ABRAXAS1, LOC129992784	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1267972	NC_000004.12:g.83485126A>G	ABRAXAS1, LOC129992784	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1297383	NC_000004.12:g.83485158C>T	ABRAXAS1, LOC129992784	Single nucleotide variant	not provided	GBenign

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Items: 54