"Ambry Genetics"[submitter] AND "BBX"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3133196	NM_001142568.3(BBX):c.722A>C (p.Gln241Pro)	BBX (Q241P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 (intron 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)	Inborn genetic diseases	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 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 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 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 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

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Items: 46