Related gene-specific medical variations for Gene (Select 54828) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256232	NM_017679.5(BCAS3):c.2425G>T (p.Gly809Cys)	BCAS3, BCAS3-AS1 (G809C +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3256229	NM_017679.5(BCAS3):c.1826A>G (p.Glu609Gly)	BCAS3, BCAS3-AS1 (E609G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133328	NM_017679.5(BCAS3):c.2420C>T (p.Ala807Val)	BCAS3, BCAS3-AS1 (A807V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133327	NM_017679.5(BCAS3):c.2224G>A (p.Val742Ile)	BCAS3, BCAS3-AS1 (V772I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133326	NM_017679.5(BCAS3):c.2155C>A (p.Pro719Thr)	BCAS3, BCAS3-AS1 (P719T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133325	NM_017679.5(BCAS3):c.1895T>C (p.Met632Thr)	BCAS3, BCAS3-AS1 (M632T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133322	NM_017679.5(BCAS3):c.1741G>T (p.Ala581Ser)	BCAS3, BCAS3-AS1 (A611S +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3133321	NM_017679.5(BCAS3):c.1654C>T (p.Pro552Ser)	BCAS3, BCAS3-AS1 (P567S +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063525	GRCh37/hg19 17q23.2(chr17:58950630-59136066)x1	BCAS3	Copy number loss	not specified	GUncertain significance
Select item 3063520	GRCh37/hg19 17q23.2(chr17:58921973-58999000)x1	BCAS3	Copy number loss	not specified	GUncertain significance
Select item 2647996	NM_017679.5(BCAS3):c.1720A>C (p.Arg574=)	BCAS3, BCAS3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2634405	NM_017679.5(BCAS3):c.2077G>A (p.Asp693Asn)	BCAS3, BCAS3-AS1 (D693N +3 more)	Single nucleotide variant (missense variant)	BCAS3-related disorder	GUncertain significance
Select item 2623284	NM_017679.5(BCAS3):c.2386G>C (p.Asp796His)	BCAS3, BCAS3-AS1 (D811H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555722	NM_017679.5(BCAS3):c.1880C>G (p.Thr627Arg)	BCAS3, BCAS3-AS1 (T627R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518117	NM_017679.5(BCAS3):c.2165G>A (p.Arg722His)	BCAS3, BCAS3-AS1 (R722H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515581	NM_017679.5(BCAS3):c.1798A>G (p.Ile600Val)	BCAS3, BCAS3-AS1 (I600V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376344	NM_017679.5(BCAS3):c.2273C>T (p.Thr758Met)	BCAS3, BCAS3-AS1 (T788M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323968	NM_017679.5(BCAS3):c.1994A>G (p.Asp665Gly)	BCAS3, BCAS3-AS1 (D665G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318948	NM_017679.5(BCAS3):c.1720A>G (p.Arg574Gly)	BCAS3, BCAS3-AS1 (R589G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296628	NM_017679.5(BCAS3):c.2261G>A (p.Gly754Asp)	BCAS3, BCAS3-AS1 (G754D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286361	NM_017679.5(BCAS3):c.1924G>A (p.Val642Ile)	BCAS3, BCAS3-AS1 (V687I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273124	NM_017679.5(BCAS3):c.1907G>T (p.Arg636Leu)	BCAS3, BCAS3-AS1 (R636L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246576	NM_017679.5(BCAS3):c.2191T>A (p.Phe731Ile)	BCAS3, BCAS3-AS1 (F761I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2149354	NM_017679.5(BCAS3):c.2264C>T (p.Pro755Leu)	BCAS3, BCAS3-AS1 (P800L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1687612	NM_017679.5(BCAS3):c.1906C>T (p.Arg636Ter)	BCAS3, BCAS3-AS1 (R636* +3 more)	Single nucleotide variant (nonsense)	Hengel-Maroofian-Schols syndrome	GPathogenic
Select item 1340122	GRCh37/hg19 17q23.2(chr17:58932118-59022605)x1	BCAS3	Copy number loss	not provided	GUncertain significance
Select item 1048568	NM_017679.5(BCAS3):c.576C>A (p.Cys192Ter)	BCAS3 (C192*)	Single nucleotide variant (nonsense)	Global developmental delay	GLikely pathogenic
Select item 1048567	NM_017679.5(BCAS3):c.337C>T (p.Gln113Ter)	BCAS3 (Q113*)	Single nucleotide variant (nonsense)	Global developmental delay	GLikely pathogenic
Select item 993277	NM_017679.5(BCAS3):c.2425G>C (p.Gly809Arg)	BCAS3, BCAS3-AS1 (G809R +3 more)	Single nucleotide variant (missense variant)	Global developmental delay	GLikely pathogenic
Select item 993276	NM_017679.5(BCAS3):c.2029+4_2029+7del	BCAS3, BCAS3-AS1	Deletion (splice donor variant)	Global developmental delay	GLikely pathogenic
Select item 993274	NM_017679.5(BCAS3):c.530del (p.Met177fs)	BCAS3 (M177fs)	Deletion (frameshift variant)	Global developmental delay	GLikely pathogenic
Select item 993273	NM_017679.5(BCAS3):c.1133del (p.Val378fs)	BCAS3 (V378fs)	Deletion (frameshift variant)	Global developmental delay	GLikely pathogenic
Select item 993272	NM_017679.5(BCAS3):c.2182C>T (p.Gln728Ter)	BCAS3, BCAS3-AS1 (Q728* +3 more)	Single nucleotide variant (nonsense)	Global developmental delay	GLikely pathogenic
Select item 993271	NM_017679.5(BCAS3):c.1684G>A (p.Gly562Arg)	BCAS3, BCAS3-AS1 (G562R +3 more)	Single nucleotide variant (missense variant)	Global developmental delay +1 more	GPathogenic/Likely pathogenic
Select item 993270	NM_017679.5(BCAS3):c.1655C>T (p.Pro552Leu)	BCAS3, BCAS3-AS1 (P552L +3 more)	Single nucleotide variant (missense variant)	Global developmental delay +1 more	GPathogenic/Likely pathogenic
Select item 988605	GRCh37/hg19 17q23.2(chr17:58829418-59018304)x1	BCAS3	Copy number loss	See cases	GUncertain significance
Select item 815945	GRCh37/hg19 17q23.2(chr17:58857083-59054823)x1	BCAS3	Copy number loss	not provided	GUncertain significance
Select item 685117	GRCh37/hg19 17q23.2(chr17:59095183-59258055)x1	BCAS3	Copy number loss	not provided	GUncertain significance
Select item 564459	GRCh37/hg19 17q23.2(chr17:59058222-59352951)x4	BCAS3	Copy number gain	not provided	GUncertain significance
Select item 394768	GRCh37/hg19 17q23.2(chr17:59176498-59398068)x1	BCAS3	Copy number loss	See cases	GLikely benign

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Items: 40