"Ambry Genetics"[submitter] AND "BBC3"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2456891	NM_014417.5(BBC3):c.*94C>T	BBC3 (T100I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133131	NM_014417.5(BBC3):c.*64C>G	BBC3 (T90S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133129	NM_014417.5(BBC3):c.*57C>T	BBC3 (P248S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133128	NM_014417.5(BBC3):c.497C>T (p.Ser166Leu)	BBC3 (S104L +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2595454	NM_014417.5(BBC3):c.485G>A (p.Arg162Gln)	BBC3 (R162Q +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2411061	NM_014417.5(BBC3):c.457G>C (p.Glu153Gln)	BBC3, LOC130064796 (E153Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260523	NM_014417.5(BBC3):c.449C>A (p.Ala150Glu)	BBC3, LOC130064796 (A88E +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3133127	NM_014417.5(BBC3):c.410T>C (p.Ile137Thr)	BBC3, LOC130064796 (I137T +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2467795	NM_014417.5(BBC3):c.343C>T (p.Leu115=)	BBC3, LOC130064796 (S149F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2347678	NM_014417.5(BBC3):c.309C>G (p.His103Gln)	BBC3, LOC130064796 (H103Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466012	NM_014417.5(BBC3):c.261C>T (p.Gly87=)	BBC3, LOC130064797 (P122S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2522554	NM_014417.5(BBC3):c.247A>C (p.Ser83Arg)	BBC3, LOC130064797 (Q117P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508533	NM_014417.5(BBC3):c.224C>T (p.Ser75Phe)	BBC3, LOC130064797 (S75F)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2596490	NM_014417.5(BBC3):c.126C>T (p.Pro42=)	BBC3, LOC130064797 (R77W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3260521	NM_014417.5(BBC3):c.123G>T (p.Glu41Asp)	BBC3, LOC130064797 (A76S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291556	NM_014417.5(BBC3):c.121G>T (p.Glu41Ter)	BBC3, LOC130064797 (E41* +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2549207	NM_014417.5(BBC3):c.78G>T (p.Pro26=)	BBC3, LOC130064797 (A61S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3133125	NM_014417.5(BBC3):c.74T>A (p.Phe25Tyr)	BBC3, LOC130064797 (F25Y)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2479538	NM_014417.5(BBC3):c.66G>C (p.Pro22=)	BBC3, LOC130064797 (A57P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2518638	NM_014417.5(BBC3):c.33G>A (p.Pro11=)	BBC3, LOC130064797 (G46R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3133124	NM_014417.5(BBC3):c.6C>T (p.Ala2=)	BBC3, LOC130064797 (P37S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2211520	NM_001127240.3(BBC3):c.40C>A (p.Gln14Lys)	BBC3 (Q14K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391114	NM_001127240.3(BBC3):c.13A>G (p.Met5Val)	BBC3 (M5V)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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Items: 23