BBX[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57243	GRCh38/hg38 3q13.11-13.13(chr3:103692220-109605902)x1	LOC129389108, LOC129389109 +89 more	Copy number loss	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC132088858, LOC132088860 +248 more	Copy number gain	See cases	GPathogenic
Select item 150361	GRCh38/hg38 3q13.11-13.13(chr3:106451492-109265496)x1	BBX, C3orf85 +61 more	Copy number loss	See cases	GPathogenic
Select item 146039	GRCh38/hg38 3q13.12(chr3:107246719-107699807)x3	BBX, CCDC54 +13 more	Copy number gain	See cases	GUncertain significance
Select item 2615120	NM_001142568.3(BBX):c.20A>G (p.Asn7Ser)	BBX (N7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260552	NM_001142568.3(BBX):c.169C>A (p.Leu57Ile)	BBX (L57I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714946	NM_001142568.3(BBX):c.180C>T (p.Ala60=)	BBX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2522338	NM_001142568.3(BBX):c.182A>G (p.Asp61Gly)	BBX (D61G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348624	NM_001142568.3(BBX):c.224C>T (p.Ser75Leu)	BBX (S75L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260555	NM_001142568.3(BBX):c.283C>T (p.Arg95Cys)	BBX (R95C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365266	NM_001142568.3(BBX):c.296G>A (p.Arg99His)	BBX (R99H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400617	NM_001142568.3(BBX):c.347A>G (p.Asp116Gly)	BBX (D116G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481075	NM_001142568.3(BBX):c.413A>T (p.Asp138Val)	BBX (D138V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260558	NM_001142568.3(BBX):c.415G>A (p.Ala139Thr)	BBX (A139T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133196	NM_001142568.3(BBX):c.722A>C (p.Gln241Pro)	BBX (Q241P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260557	NM_001142568.3(BBX):c.751A>T (p.Ile251Leu)	BBX (I251L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773704	NM_001142568.3(BBX):c.779C>T (p.Ala260Val)	BBX (A260V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2234835	NM_001142568.3(BBX):c.805G>C (p.Ala269Pro)	BBX (A269P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371889	NM_001142568.3(BBX):c.824A>C (p.Glu275Ala)	BBX (E275A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555323	NM_001142568.3(BBX):c.871C>T (p.Arg291Cys)	BBX (R291C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400098	NM_001142568.3(BBX):c.970G>A (p.Asp324Asn)	BBX (D324N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520869	NM_001142568.3(BBX):c.1021A>C (p.Lys341Gln)	BBX (K341Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208308	NM_001142568.3(BBX):c.1040A>G (p.Glu347Gly)	BBX (E347G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368617	NM_001142568.3(BBX):c.1043C>G (p.Thr348Ser)	BBX (T348S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133181	NM_001142568.3(BBX):c.1046G>A (p.Arg349Lys)	BBX (R349K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133182	NM_001142568.3(BBX):c.1099T>C (p.Ser367Pro)	BBX (S367P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593463	NM_001142568.3(BBX):c.1123G>A (p.Ala375Thr)	BBX (A375T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133183	NM_001142568.3(BBX):c.1133T>G (p.Ile378Arg)	BBX (I378R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288360	NM_001142568.3(BBX):c.1283A>G (p.His428Arg)	BBX (H428R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 719250	NM_001142568.3(BBX):c.1324G>A (p.Ala442Thr)	BBX (A442T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3133184	NM_001142568.3(BBX):c.1456G>A (p.Val486Ile)	BBX (V486I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266595	NM_001142568.3(BBX):c.1501G>C (p.Glu501Gln)	BBX (E501Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133185	NM_001142568.3(BBX):c.1556G>A (p.Gly519Glu)	BBX (G519E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533847	NM_001142568.3(BBX):c.1583A>G (p.Lys528Arg)	BBX (K528R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260554	NM_001142568.3(BBX):c.1628C>G (p.Ser543Cys)	BBX (S543C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133186	NM_001142568.3(BBX):c.1637C>G (p.Thr546Ser)	BBX (T546S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620045	NM_001142568.3(BBX):c.1660G>A (p.Asp554Asn)	BBX (D554N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133187	NM_001142568.3(BBX):c.1688A>T (p.Asn563Ile)	BBX (N563I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133188	NM_001142568.3(BBX):c.1691T>A (p.Ile564Asn)	BBX (I564N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285531	NM_001142568.3(BBX):c.1753C>T (p.Pro585Ser)	BBX (P585S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518501	NM_001142568.3(BBX):c.1774G>A (p.Ala592Thr)	BBX (A592T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387593	NM_001142568.3(BBX):c.1958G>C (p.Gly653Ala)	BBX (G317R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610922	NM_001142568.3(BBX):c.2059G>A (p.Ala687Thr)	BBX (A687T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133189	NM_001142568.3(BBX):c.2067G>A (p.Leu689=)	BBX (W353*)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 713780	NM_001142568.3(BBX):c.2277C>T (p.Pro759=)	BBX (P423L)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3133190	NM_001142568.3(BBX):c.2279A>G (p.Asn760Ser)	BBX (M424V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133192	NM_001142568.3(BBX):c.2334T>A (p.Asp778Glu)	BBX (D748E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767920	NM_001142568.3(BBX):c.2353+4A>G	BBX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2317661	NM_001142568.3(BBX):c.2386C>T (p.Pro796Ser)	BBX (P766S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232253	NM_001142568.3(BBX):c.2387C>T (p.Pro796Leu)	BBX (P766L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550787	NM_001142568.3(BBX):c.2524C>G (p.Arg842Gly)	BBX (R812G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133193	NM_001142568.3(BBX):c.2619A>T (p.Lys873Asn)	BBX (K873N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375496	NM_001142568.3(BBX):c.2641G>A (p.Gly881Arg)	BBX (G851R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 784014	NM_001142568.3(BBX):c.2676C>T (p.Ala892=)	BBX (P556L)	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3133194	NM_001142568.3(BBX):c.2677G>A (p.Val893Met)	BBX (V863M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260556	NM_001142568.3(BBX):c.2695C>T (p.Leu899Phe)	BBX (L869F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245059	NM_001142568.3(BBX):c.2698G>A (p.Ala900Thr)	BBX (A870T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336699	NM_001142568.3(BBX):c.2735A>G (p.His912Arg)	BBX (T576A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262496	NM_001142568.3(BBX):c.2770G>A (p.Gly924Arg)	BBX (G894R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376405	NM_001142568.3(BBX):c.2787G>A (p.Met929Ile)	BBX (M929I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621037	NM_001142568.3(BBX):c.2797C>T (p.Pro933Ser)	BBX (P933S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335331	NM_001142568.3(BBX):c.2822A>G (p.Gln941Arg)	BBX (Q941R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685089	GRCh37/hg19 3q13.12-13.13(chr3:106530324-108811014)x1	BBX, CCDC54 +10 more	Copy number loss	not provided	GUncertain significance
Select item 1807773	GRCh37/hg19 3q13.12-13.31(chr3:107059705-115005256)x1	ABHD10, ATG3 +49 more	Copy number loss	not provided	GPathogenic
Select item 1703653	GRCh37/hg19 3q13.12-13.31(chr3:106598767-115704696)	ABHD10, ATG3 +51 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 814468	GRCh37/hg19 3q12.3-13.2(chr3:101812245-112174485)x1	ABHD10, ALCAM +29 more	Copy number loss	not provided	GPathogenic
Select item 562799	GRCh37/hg19 3q13.12-13.13(chr3:106706719-109171489)x1	MORC1-AS1, DZIP3 +13 more	Copy number loss	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +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
Select item 393800	GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1	ABHD10, ALCAM +53 more	Copy number loss	See cases	GPathogenic

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Items: 76