ABRACL[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 1684644	Single allele	ABRACL, AHI1 +260 more	Deletion	Autoinflammatory syndrome, familial, Behcet-like	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 148927	GRCh38/hg38 6q24.1(chr6:139002616-140199336)x3	ABRACL, CITED2 +42 more	Copy number gain	See cases	GUncertain significance
Select item 2345443	NM_021243.3(ABRACL):c.7G>A (p.Val3Met)	ABRACL (V3M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132558	NM_021243.3(ABRACL):c.46C>T (p.Arg16Cys)	ABRACL (R16C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491768	NM_021243.3(ABRACL):c.64G>A (p.Ala22Thr)	ABRACL (A22T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274182	NM_021243.3(ABRACL):c.69T>A (p.Asp23Glu)	ABRACL (D23E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132570	NM_021243.3(ABRACL):c.80G>A (p.Ser27Asn)	ABRACL (S27N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292475	NM_021243.3(ABRACL):c.112A>G (p.Lys38Glu)	ABRACL (K38E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 1527297	GRCh37/hg19 6q24.1(chr6:139093282-140660265)	ABRACL, CCDC28A +5 more	Copy number gain	not specified	GUncertain significance
Select item 1180549	GRCh37/hg19 6q23.2-24.1(chr6:133810210-140046615)x1	MYB, NHSL1 +32 more	Copy number loss	not provided	GPathogenic
Select item 972948	GRCh37/hg19 6q23.3-24.1(chr6:135936688-140660269)x1	ABRACL, ARFGEF3 +23 more	Copy number loss	not provided	Gnot provided
Select item 814871	GRCh37/hg19 6q23.2-24.1(chr6:133817341-140038401)x1	SLC35D3, IFNGR1 +32 more	Copy number loss	not provided	GPathogenic
Select item 625705	GRCh37/hg19 6q23.3-24.3(chr6:135239633-146997510)	ABRACL, ADAT2 +49 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 441897	GRCh37/hg19 6q23.2-24.2(chr6:133077239-143761582)x1	ABRACL, ADAT2 +41 more	Copy number loss	See cases	GPathogenic

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Items: 21