18003[HGNC] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +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 149759	GRCh38/hg38 6q23.3(chr6:136630655-137791240)x4	IFNGR1, IL20RA +72 more	Copy number gain	See cases	GLikely benign
Select item 2323378	NM_175747.2(OLIG3):c.773C>A (p.Ala258Asp)	OLIG3 (A258D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508273	NM_175747.2(OLIG3):c.749C>T (p.Pro250Leu)	OLIG3 (P250L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336422	NM_175747.2(OLIG3):c.641C>G (p.Ser214Trp)	OLIG3 (S214W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204288	NM_175747.2(OLIG3):c.601G>T (p.Ala201Ser)	OLIG3 (A201S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656933	NM_175747.2(OLIG3):c.588A>G (p.Ser196=)	OLIG3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2265622	NM_175747.2(OLIG3):c.547C>A (p.Pro183Thr)	OLIG3 (P183T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204287	NM_175747.2(OLIG3):c.517C>T (p.His173Tyr)	OLIG3 (H173Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483458	NM_175747.2(OLIG3):c.482G>A (p.Cys161Tyr)	OLIG3 (C161Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204286	NM_175747.2(OLIG3):c.455A>G (p.Tyr152Cys)	OLIG3 (Y152C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656934	NM_175747.2(OLIG3):c.387C>T (p.Leu129=)	OLIG3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2328637	NM_175747.2(OLIG3):c.359A>G (p.Lys120Arg)	OLIG3 (K120R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330640	NM_175747.2(OLIG3):c.208T>C (p.Tyr70His)	OLIG3 (Y70H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206312	NM_175747.2(OLIG3):c.165C>G (p.Ser55Arg)	OLIG3 (S55R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614076	NM_175747.2(OLIG3):c.153G>T (p.Met51Ile)	OLIG3 (M51I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471120	NM_175747.2(OLIG3):c.141G>A (p.Met47Ile)	OLIG3 (M47I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314116	NM_175747.2(OLIG3):c.139A>G (p.Met47Val)	OLIG3 (M47V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331351	NM_175747.2(OLIG3):c.59T>G (p.Met20Arg)	OLIG3 (M20R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204285	NM_175747.2(OLIG3):c.40T>A (p.Ser14Thr)	OLIG3 (S14T)	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 1450358	NC_000006.11:g.(?_137143759)_(138202456_?)del	IFNGR1, IL20RA +6 more	Deletion	Disseminated atypical mycobacterial infection	GPathogenic
Select item 1180549	GRCh37/hg19 6q23.2-24.1(chr6:133810210-140046615)x1	ABRACL, AHI1 +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)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +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: 33