BBOX1[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 148655	GRCh38/hg38 11p14.3-14.1(chr11:23024064-27978597)x1	ANO3, ANO3-AS1 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 145522	GRCh38/hg38 11p14.3-13(chr11:24595399-31096539)x3	ANO3, ANO3-AS1 +71 more	Copy number gain	See cases	GPathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 149943	GRCh38/hg38 11p14.2-14.1(chr11:26555328-27307056)x1	ANO3, BBOX1 +10 more	Copy number loss	See cases	GUncertain significance
Select item 152757	GRCh38/hg38 11p14.2(chr11:26984514-27161130)x3	BBOX1, BBOX1-AS1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 146508	GRCh38/hg38 11p14.2-14.1(chr11:26984514-27203827)x1	BBOX1, BBOX1-AS1 +1 more	Copy number loss	See cases	GUncertain significance
Select item 2367221	NM_003986.3(BBOX1):c.8G>C (p.Cys3Ser)	BBOX1, BBOX1-AS1 (C3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260527	NM_003986.3(BBOX1):c.37G>A (p.Gly13Arg)	BBOX1, BBOX1-AS1 (G13R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260528	NM_003986.3(BBOX1):c.41C>A (p.Ala14Asp)	BBOX1, BBOX1-AS1 (A14D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323795	NM_003986.3(BBOX1):c.77A>C (p.Glu26Ala)	BBOX1, BBOX1-AS1 (E26A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261223	NM_003986.3(BBOX1):c.116C>T (p.Pro39Leu)	BBOX1, BBOX1-AS1 (P39L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243077	NM_003986.3(BBOX1):c.151C>T (p.Arg51Trp)	BBOX1, BBOX1-AS1 (R51W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608974	NM_003986.3(BBOX1):c.209A>T (p.Asp70Val)	BBOX1, BBOX1-AS1 (D70V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133135	NM_003986.3(BBOX1):c.232T>A (p.Trp78Arg)	BBOX1, BBOX1-AS1 (W78R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285444	NM_003986.3(BBOX1):c.241G>A (p.Glu81Lys)	BBOX1, BBOX1-AS1 (E81K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246104	NM_003986.3(BBOX1):c.247T>A (p.Tyr83Asn)	BBOX1, BBOX1-AS1 (Y83N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296685	NM_003986.3(BBOX1):c.266A>T (p.Asp89Val)	BBOX1, BBOX1-AS1 (D89V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553336	NM_003986.3(BBOX1):c.346T>C (p.Trp116Arg)	BBOX1, BBOX1-AS1 (W116R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588349	NM_003986.3(BBOX1):c.350G>T (p.Gly117Val)	BBOX1, BBOX1-AS1 (G117V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354170	NM_003986.3(BBOX1):c.363G>C (p.Gln121His)	BBOX1, BBOX1-AS1 (Q121H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735727	NM_003986.3(BBOX1):c.399T>C (p.Tyr133=)	BBOX1, BBOX1-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2525060	NM_003986.3(BBOX1):c.505A>C (p.Met169Leu)	BBOX1, BBOX1-AS1 (M169L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133136	NM_003986.3(BBOX1):c.535C>T (p.His179Tyr)	BBOX1, BBOX1-AS1 (H179Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302222	NM_003986.3(BBOX1):c.616C>G (p.Pro206Ala)	BBOX1, BBOX1-AS1 (P206A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780965	NM_003986.3(BBOX1):c.621C>T (p.Ala207=)	BBOX1, BBOX1-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3133138	NM_003986.3(BBOX1):c.626A>G (p.His209Arg)	BBOX1, BBOX1-AS1 (H209R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133139	NM_003986.3(BBOX1):c.743C>T (p.Ala248Val)	BBOX1, BBOX1-AS1 (A248V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133140	NM_003986.3(BBOX1):c.770T>C (p.Val257Ala)	BBOX1, BBOX1-AS1 (V257A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133141	NM_003986.3(BBOX1):c.841G>C (p.Asp281His)	BBOX1, BBOX1-AS1 (D281H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778515	NM_003986.3(BBOX1):c.930T>C (p.Phe310=)	BBOX1, BBOX1-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2542345	NM_003986.3(BBOX1):c.959T>G (p.Leu320Arg)	BBOX1, BBOX1-AS1 (L320R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035182	NM_003986.3(BBOX1):c.960C>A (p.Leu320=)	BBOX1, BBOX1-AS1	Single nucleotide variant (synonymous variant)	BBOX1-related disorder	GLikely benign
Select item 2239433	NM_003986.3(BBOX1):c.981G>C (p.Lys327Asn)	BBOX1, BBOX1-AS1 (K327N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253676	NM_003986.3(BBOX1):c.1007A>T (p.Asp336Val)	BBOX1, BBOX1-AS1 (D336V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223780	NM_003986.3(BBOX1):c.1013T>A (p.Ile338Asn)	BBOX1, BBOX1-AS1 (I338N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133133	NM_003986.3(BBOX1):c.1043G>T (p.Gly348Val)	BBOX1, BBOX1-AS1 (G348V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550364	NM_003986.3(BBOX1):c.1157G>A (p.Gly386Glu)	BBOX1, BBOX1-AS1 (G386E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685400	GRCh37/hg19 11p14.3-14.1(chr11:25454219-27238107)x1	ANO3, BBOX1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1341301	GRCh37/hg19 11p14.2-14.1(chr11:26992679-27247518)x1	BBOX1, FIBIN	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815411	GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	LDHA, SLC5A12 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 689248	GRCh37/hg19 11p14.2-14.1(chr11:26975017-27238107)x1	BBOX1, FIBIN	Copy number loss	not provided	GUncertain significance
Select item 688898	GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	ABTB2, ANO3 +55 more	Copy number loss	not provided	GPathogenic
Select item 688808	GRCh37/hg19 11p14.2-14.1(chr11:26992685-27238107)x1	BBOX1, FIBIN	Copy number loss	not provided	GUncertain significance
Select item 688388	GRCh37/hg19 11p14.2-14.1(chr11:26975017-27238107)x3	BBOX1, FIBIN	Copy number gain	not provided	GUncertain significance
Select item 685587	GRCh37/hg19 11p14.2-14.1(chr11:26975017-27238107)x3	BBOX1, FIBIN	Copy number gain	not provided	GUncertain significance
Select item 563874	GRCh37/hg19 11p14.3-14.1(chr11:25090108-28909131)x3	BBOX1, CCDC34 +12 more	Copy number gain	not provided	GUncertain significance
Select item 442716	GRCh37/hg19 11p14.2-14.1(chr11:26992679-27238090)x1	FIBIN, BBOX1	Copy number loss	See cases	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441893	GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1	ABTB2, ANO3 +48 more	Copy number loss	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 376759	GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1	KCNA4, KIF18A +39 more	Copy number loss	Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome	GPathogenic
Select item 376757	GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1	DCDC1, DNAJC24 +44 more	Copy number loss	Aniridia 1	GPathogenic

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Items: 59