A4GNT[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	ALDH1L1, ALDH1L1-AS1 +484 more	Copy number gain	See cases	GUncertain significance
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	ARMC8, ASTE1 +345 more	Copy number loss	See cases	GPathogenic
Select item 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	See cases	GPathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937661, LOC129937662 +320 more	Copy number loss	See cases	GPathogenic
Select item 151765	GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1	A4GNT, AMOTL2 +167 more	Copy number loss	See cases	GPathogenic
Select item 57832	GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1	A4GNT, ARMC8 +221 more	Copy number loss	See cases	GPathogenic
Select item 57794	GRCh38/hg38 3q22.3(chr3:137593514-138443019)x3	A4GNT, ARMC8 +16 more	Copy number gain	See cases	GUncertain significance
Select item 145313	GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)x1	A4GNT, ARMC8 +171 more	Copy number loss	See cases	GPathogenic
Select item 150251	GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)x1	A4GNT, ARMC8 +155 more	Copy number loss	See cases	GPathogenic
Select item 2219341	NM_016161.3(A4GNT):c.892C>T (p.Arg298Trp)	A4GNT (R298W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324103	NM_016161.3(A4GNT):c.890G>A (p.Gly297Glu)	A4GNT (G297E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509476	NM_016161.3(A4GNT):c.809G>A (p.Arg270His)	A4GNT (R270H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713695	NM_016161.3(A4GNT):c.796C>T (p.Arg266Ter)	A4GNT (R266*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2624246	NM_016161.3(A4GNT):c.768C>A (p.His256Gln)	A4GNT (H256Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474338	NM_016161.3(A4GNT):c.696G>T (p.Leu232Phe)	A4GNT (L232F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2654187	NM_016161.3(A4GNT):c.642C>A (p.His214Gln)	A4GNT (H214Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 986178	NM_016161.3(A4GNT):c.574A>G (p.Asn192Asp)	A4GNT (N192D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621205	NM_016161.3(A4GNT):c.563G>A (p.Arg188Gln)	A4GNT (R188Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2616649	NM_016161.3(A4GNT):c.562C>T (p.Arg188Trp)	A4GNT (R188W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284446	NM_016161.3(A4GNT):c.421G>C (p.Ala141Pro)	A4GNT (A141P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456386	NM_016161.3(A4GNT):c.397T>C (p.Trp133Arg)	A4GNT (W133R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264028	NM_016161.3(A4GNT):c.305A>T (p.Tyr102Phe)	A4GNT (Y102F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289372	NM_016161.3(A4GNT):c.292T>C (p.Ser98Pro)	A4GNT (S98P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2545599	NM_016161.3(A4GNT):c.111G>T (p.Lys37Asn)	A4GNT (K37N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2426786	NC_000003.11:g.(?_137781658)_(138665815_?)del	A4GNT, ARMC8 +9 more	Deletion	not provided	GPathogenic
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1411280	NC_000003.11:g.(?_137781658)_(139258560_?)dup	A4GNT, ARMC8 +17 more	Duplication	not provided	GUncertain significance
Select item 686241	GRCh37/hg19 3q22.2-23(chr3:135186881-140826836)x3	A4GNT, ARMC8 +31 more	Copy number gain	not provided	GUncertain significance
Select item 625695	GRCh37/hg19 3q22.2-24(chr3:135288025-146874012)	A4GNT, ARMC8 +54 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 394807	GRCh37/hg19 3q22.3(chr3:137848838-137882743)x3	A4GNT, DBR1	Copy number gain	See cases	GBenign
Select item 253333	GRCh37/hg19 3q22.3-23(chr3:135935129-141867748)x3	ARMC8, ZBTB38 +36 more	Copy number gain	See cases	GLikely pathogenic

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Items: 37