17637[HGNC] - ClinVar

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Items: 36

	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 3305818	NM_022121.5(PERP):c.533A>G (p.Asp178Gly)	PERP (D178G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 997853	NM_022121.5(PERP):c.466G>A (p.Gly156Arg)	PERP (G156R)	Single nucleotide variant (missense variant)	Erythrokeratodermia variabilis et progressiva 7	GPathogenic
Select item 997852	NM_022121.5(PERP):c.459C>A (p.Tyr153Ter)	PERP (Y153*)	Single nucleotide variant (nonsense)	Olmsted syndrome 2	GPathogenic
Select item 997850	NM_022121.5(PERP):c.459C>G (p.Tyr153Ter)	PERP (Y153*)	Single nucleotide variant (nonsense)	Olmsted syndrome 2	GPathogenic
Select item 997848	NM_022121.5(PERP):c.453G>A (p.Trp151Ter)	PERP (W151*)	Single nucleotide variant (nonsense)	Olmsted syndrome 2	GPathogenic
Select item 997849	NM_022121.5(PERP):c.452G>A (p.Trp151Ter)	PERP (W151*)	Single nucleotide variant (nonsense)	Olmsted syndrome 2	GPathogenic
Select item 2356677	NM_022121.5(PERP):c.392T>C (p.Val131Ala)	PERP (V131A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507670	NM_022121.5(PERP):c.391G>A (p.Val131Met)	PERP (V131M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370430	NM_022121.5(PERP):c.388C>T (p.Pro130Ser)	PERP (P130S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338169	NM_022121.5(PERP):c.309G>T (p.Gln103His)	PERP (Q103H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 780646	NM_022121.5(PERP):c.294C>T (p.Ala98=)	PERP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3211464	NM_022121.5(PERP):c.238A>G (p.Met80Val)	PERP (M80V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3211463	NM_022121.5(PERP):c.230C>T (p.Ala77Val)	PERP (A77V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510104	NM_022121.5(PERP):c.210G>C (p.Glu70Asp)	PERP (E70D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2656936	NM_022121.5(PERP):c.175G>A (p.Gly59Arg)	PERP (G59R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 792057	NM_022121.5(PERP):c.125G>T (p.Gly42Val)	PERP (G42V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 997851	NM_022121.5(PERP):c.112del (p.Ser38fs)	PERP (S38fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2609030	NM_022121.5(PERP):c.100G>A (p.Gly34Ser)	PERP (G34S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 710628	NM_022121.5(PERP):c.99C>T (p.Arg33=)	PERP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780647	NM_022121.5(PERP):c.70G>T (p.Ala24Ser)	PERP (A24S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3305817	NM_022121.5(PERP):c.52C>A (p.Leu18Ile)	PERP (L18I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1180549	GRCh37/hg19 6q23.2-24.1(chr6:133810210-140046615)x1	MYB, NHSL1 +32 more	Copy number loss	not provided	GPathogenic
Select item 980790	GRCh37/hg19 6q23.3(chr6:138396174-138736943)x3	ARFGEF3, HEBP2 +2 more	Copy number gain	not provided	GUncertain significance
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 830783	NC_000006.12:g.(?_137871228)_(138263611_?)del	ARFGEF3, PBOV1 +2 more	Deletion	not provided	GPathogenic
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: 36