ClinVar for Gene (Select 100131635) - ClinVar

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Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3480173	NM_001706.5(BCL6):c.1597C>A (p.Leu533Ile)	BCL6, LOC100131635 (L533I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3480172	NM_001706.5(BCL6):c.460A>T (p.Ile154Phe)	BCL6, LOC100131635 (I154F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3480171	NM_001706.5(BCL6):c.1684G>A (p.Ala562Thr)	BCL6, LOC100131635 (A562T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3480170	NM_001706.5(BCL6):c.1169C>A (p.Ala390Asp)	BCL6, LOC100131635 (A390D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3480169	NM_001706.5(BCL6):c.1648C>T (p.Arg550Cys)	BCL6, LOC100131635 (R550C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3480168	NM_001706.5(BCL6):c.1154G>A (p.Ser385Asn)	BCL6, LOC100131635 (S385N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3480167	NM_001706.5(BCL6):c.1391G>T (p.Ser464Ile)	BCL6, LOC100131635 (S464I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3480166	NM_001706.5(BCL6):c.1174C>T (p.Pro392Ser)	BCL6, LOC100131635 (P392S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3480165	NM_001706.5(BCL6):c.735G>A (p.Pro245=)	BCL6, LOC100131635	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3480164	NM_001706.5(BCL6):c.1252A>C (p.Met418Leu)	BCL6, LOC100131635 (M418L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133435	NM_001706.5(BCL6):c.1372C>T (p.Pro458Ser)	BCL6, LOC100131635 (P458S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133434	NM_001706.5(BCL6):c.1302C>A (p.Ser434Arg)	BCL6, LOC100131635 (S434R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612944	NM_001706.5(BCL6):c.707G>A (p.Arg236Lys)	BCL6, LOC100131635 (R236K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607821	NM_001706.5(BCL6):c.1986G>T (p.Lys662Asn)	BCL6, LOC100131635 (K606N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606843	NM_001706.5(BCL6):c.1109C>A (p.Pro370His)	BCL6, LOC100131635 (P370H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596525	NM_001706.5(BCL6):c.1241G>A (p.Cys414Tyr)	BCL6, LOC100131635 (C414Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559906	NM_001706.5(BCL6):c.628G>C (p.Asp210His)	BCL6, LOC100131635 (D210H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540535	NM_001706.5(BCL6):c.1333C>T (p.Arg445Trp)	BCL6, LOC100131635 (R445W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521673	NM_001706.5(BCL6):c.1267C>T (p.Leu423Phe)	BCL6, LOC100131635 (L423F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519975	NM_001706.5(BCL6):c.439C>T (p.Arg147Trp)	BCL6, LOC100131635 (R147W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515439	NM_001706.5(BCL6):c.433A>C (p.Asn145His)	BCL6, LOC100131635 (N145H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481684	NM_001706.5(BCL6):c.1417C>A (p.Pro473Thr)	BCL6, LOC100131635 (P473T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463647	NM_001706.5(BCL6):c.319G>A (p.Ala107Thr)	BCL6, LOC100131635 (A107T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462878	NM_001706.5(BCL6):c.548G>A (p.Ser183Asn)	BCL6, LOC100131635 (S183N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461434	NM_001706.5(BCL6):c.1204C>T (p.Arg402Cys)	BCL6, LOC100131635 (R402C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458095	NM_001706.5(BCL6):c.1629C>A (p.Asp543Glu)	BCL6, LOC100131635 (D543E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375099	NM_001706.5(BCL6):c.734C>T (p.Pro245Leu)	BCL6, LOC100131635 (P245L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355053	NM_001706.5(BCL6):c.1217G>A (p.Arg406Gln)	BCL6, LOC100131635 (R406Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335230	NM_001706.5(BCL6):c.973C>T (p.Arg325Trp)	BCL6, LOC100131635 (R325W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294551	NM_001706.5(BCL6):c.234C>G (p.Ile78Met)	BCL6, LOC100131635 (I78M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260739	NM_001706.5(BCL6):c.1848C>A (p.His616Gln)	BCL6, LOC100131635 (H560Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245665	NM_001706.5(BCL6):c.1249C>G (p.Pro417Ala)	BCL6, LOC100131635 (P417A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228659	NM_001706.5(BCL6):c.1226C>T (p.Thr409Met)	BCL6, LOC100131635 (T409M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781975	NM_001706.5(BCL6):c.1356-3T>C	BCL6, LOC100131635	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 734312	NM_001706.5(BCL6):c.1840-7C>T	BCL6, LOC100131635	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 729094	NM_001706.5(BCL6):c.1205G>A (p.Arg402His)	BCL6, LOC100131635 (R402H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 729093	NM_001706.5(BCL6):c.2082A>G (p.Ser694=)	BCL6, LOC100131635	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717149	NM_001706.5(BCL6):c.627C>T (p.Ser209=)	BCL6, LOC100131635	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 545290	NC_000003.12:g.(?_187222939)_(194312782_?)del	ATP13A4, ATP13A4-AS1 +180 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 155397	GRCh38/hg38 3q27.3-28(chr3:187434386-192142942)x1	LOC132088908, LOC132088909 +97 more	Copy number loss	See cases	GLikely pathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 148900	GRCh38/hg38 3q27.3-29(chr3:186765148-194409416)x1	ADIPOQ, ADIPOQ-AS1 +237 more	Copy number loss	See cases	GPathogenic
Select item 148755	GRCh38/hg38 3q27.3-28(chr3:187521625-188779207)x1	BCL6, BCL6-AS1 +21 more	Copy number loss	See cases	GUncertain significance
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	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 133676	NM_001706.5(BCL6):c.1477G>A (p.Ala493Thr)	BCL6, LOC100131635 (A493T)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133675	NM_001706.5(BCL6):c.1375C>T (p.Arg459Cys)	BCL6, LOC100131635 (R459C)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133674	NM_001706.5(BCL6):c.1364C>T (p.Thr455Met)	LOC100131635, BCL6 (T455M)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133673	NM_001706.5(BCL6):c.492G>T (p.Glu164Asp)	BCL6, LOC100131635 (E164D)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133672	NM_001706.5(BCL6):c.962C>T (p.Ala321Val)	LOC100131635, BCL6 (A321V)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133671	NM_001706.5(BCL6):c.905A>G (p.Glu302Gly)	BCL6, LOC100131635 (E302G)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133670	NM_001706.5(BCL6):c.1166A>G (p.Asn389Ser)	BCL6, LOC100131635 (N389S)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133668	NM_001706.5(BCL6):c.1549_1550delinsAT (p.Ala517Ile)	BCL6, LOC100131635 (A517I)	Indel (missense variant +1 more)	not specified	Gnot provided
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57871	GRCh38/hg38 3q27.3-28(chr3:187446231-190839052)x1	BCL6, BCL6-AS1 +70 more	Copy number loss	See cases	GPathogenic
Select item 57870	GRCh38/hg38 3q27.3-29(chr3:187446231-195029133)x1	ATP13A3, ATP13A3-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 65