KBTBD8[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	ROBO1, ROBO2 +481 more	Copy number loss	See cases	GPathogenic
Select item 57136	GRCh38/hg38 3p14.2-14.1(chr3:61970847-68465832)x1	ADAMTS9, ADAMTS9-AS1 +105 more	Copy number loss	See cases	GPathogenic
Select item 57772	GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1	ADAMTS9-AS2, ARL6IP5 +234 more	Copy number loss	See cases	GPathogenic
Select item 152120	GRCh38/hg38 3p14.1(chr3:65485083-67218667)x3	KBTBD8, LOC105377143 +31 more	Copy number gain	See cases	GUncertain significance
Select item 2367540	NM_032505.3(KBTBD8):c.10T>G (p.Ser4Ala)	KBTBD8 (S4A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491951	NM_032505.3(KBTBD8):c.88T>C (p.Phe30Leu)	KBTBD8 (F30L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473939	NM_032505.3(KBTBD8):c.376G>T (p.Ala126Ser)	KBTBD8 (A126S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619777	NM_032505.3(KBTBD8):c.429G>C (p.Met143Ile)	KBTBD8 (M143I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588871	NM_032505.3(KBTBD8):c.458T>C (p.Ile153Thr)	KBTBD8 (I153T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542687	NM_032505.3(KBTBD8):c.527G>A (p.Arg176His)	KBTBD8 (R176H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473030	NM_032505.3(KBTBD8):c.538C>G (p.Leu180Val)	KBTBD8 (L180V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594338	NM_032505.3(KBTBD8):c.932C>T (p.Thr311Ile)	KBTBD8 (T311I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381521	NM_032505.3(KBTBD8):c.970C>G (p.Leu324Val)	KBTBD8 (L324V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313081	NM_032505.3(KBTBD8):c.1013A>G (p.Tyr338Cys)	KBTBD8 (Y338C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272623	NM_032505.3(KBTBD8):c.1040G>T (p.Ser347Ile)	KBTBD8 (S347I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279170	NM_032505.3(KBTBD8):c.1190G>A (p.Gly397Asp)	KBTBD8 (G397D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487743	NM_032505.3(KBTBD8):c.1264A>T (p.Thr422Ser)	KBTBD8 (T422S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552465	NM_032505.3(KBTBD8):c.1348T>C (p.Phe450Leu)	KBTBD8 (F450L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537182	NM_032505.3(KBTBD8):c.1351T>G (p.Phe451Val)	KBTBD8 (F451V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385909	NM_032505.3(KBTBD8):c.1573C>T (p.Leu525Phe)	KBTBD8 (L525F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062713	GRCh37/hg19 3p14.2-13(chr3:62188399-71663248)x1	ADAMTS9, ARL6IP5 +24 more	Copy number loss	not specified	GPathogenic
Select item 1808122	GRCh37/hg19 3p14.1(chr3:65448162-67283742)x3	KBTBD8, LRIG1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1341307	GRCh37/hg19 3p14.2-13(chr3:59332508-70686155)x1	ADAMTS9, ARL6IP5 +24 more	Copy number loss	not provided	GPathogenic
Select item 814451	GRCh37/hg19 3p14.1(chr3:65459431-67283891)x3	MAGI1, KBTBD8 +1 more	Copy number gain	not provided	GUncertain significance
Select item 562781	GRCh37/hg19 3p14.1-12.3(chr3:66133719-75076440)x1	ARL6IP5, CNTN3 +22 more	Copy number loss	not provided	GPathogenic
Select item 562778	GRCh37/hg19 3p14.1(chr3:65448161-67286083)x3	KBTBD8, MAGI1 +1 more	Copy number gain	not provided	GUncertain significance
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

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Items: 28