BBC3[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 60103	GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1	AP2S1, ARHGAP35 +123 more	Copy number loss	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic
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 770466	NM_014417.5(BBC3):c.*23C>T	BBC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
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
Select item 2504578	GRCh37/hg19 19q13.32-13.33(chr19:47028919-48185409)	AP2S1, ARHGAP35 +25 more	Copy number gain	Coffin-Siris syndrome 12	GLikely pathogenic
Select item 1526668	GRCh37/hg19 19q13.32(chr19:46918881-47782258)	AP2S1, ARHGAP35 +18 more	Copy number gain	not specified	GUncertain significance
Select item 816087	GRCh37/hg19 19q13.32-13.33(chr19:47331662-48234260)x3	ZNF541, EHD2 +17 more	Copy number gain	not provided	GUncertain significance
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	OPA3, PPP1R37 +74 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 625762	GRCh37/hg19 19q13.32-13.33(chr19:47036361-48525536)	AP2S1, ARHGAP35 +33 more	Copy number gain	not provided	GPathogenic
Select item 493602	GRCh37/hg19 19q13.32(chr19:47228251-47867279)x3	AP2S1, ARHGAP35 +13 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 441540	GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1	AP2S1, ARHGAP35 +46 more	Copy number loss	See cases	GLikely pathogenic
Select item 394131	GRCh37/hg19 19q13.32(chr19:47567615-47856225)x3	BBC3, C5AR1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 393971	GRCh37/hg19 19q13.32(chr19:47450549-47880338)x3	ARHGAP35, BBC3 +9 more	Copy number gain	See cases	GLikely pathogenic

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Items: 40