ClinVar for Gene (Select 613) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3260727	NM_004327.4(BCR):c.928A>T (p.Thr310Ser)	BCR (T310S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260726	NM_004327.4(BCR):c.683G>C (p.Arg228Thr)	BCR (R228T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260725	NM_004327.4(BCR):c.583G>A (p.Glu195Lys)	BCR (E195K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260724	NM_004327.4(BCR):c.38C>G (p.Ala13Gly)	BCR, LOC130067091 (A13G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260723	NM_004327.4(BCR):c.980G>C (p.Gly327Ala)	BCR (G327A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260722	NM_004327.4(BCR):c.3784A>G (p.Arg1262Gly)	BCR (R1218G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260721	NM_004327.4(BCR):c.2324A>G (p.Asn775Ser)	BCR (N775S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260720	NM_004327.4(BCR):c.650A>G (p.His217Arg)	BCR (H217R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260718	NM_004327.4(BCR):c.704C>T (p.Ser235Phe)	BCR (S235F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234227	NM_004327.4(BCR):c.2721G>A (p.Pro907=)	BCR, LOC107963955	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3148894	GRCh37/hg19 22q11.21-11.23(chr22:21804597-24629406)x3	BCR, C22orf15 +43 more	Copy number gain	not provided	GUncertain significance
Select item 3148891	GRCh37/hg19 22q11.23(chr22:23652549-25002659)x3	ADORA2A, BCR +26 more	Copy number gain	See cases	GPathogenic
Select item 3133581	NM_004327.4(BCR):c.878A>G (p.Lys293Arg)	BCR (K293R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133580	NM_004327.4(BCR):c.694C>T (p.Arg232Trp)	BCR (R232W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133579	NM_004327.4(BCR):c.691T>A (p.Tyr231Asn)	BCR (Y231N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133578	NM_004327.4(BCR):c.655G>A (p.Ala219Thr)	BCR (A219T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133577	NM_004327.4(BCR):c.628A>T (p.Met210Leu)	BCR (M210L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133576	NM_004327.4(BCR):c.552C>A (p.His184Gln)	BCR (H184Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133575	NM_004327.4(BCR):c.3773C>T (p.Pro1258Leu)	BCR (P1214L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133574	NM_004327.4(BCR):c.3598C>A (p.Leu1200Met)	BCR (L1200M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133573	NM_004327.4(BCR):c.3304A>G (p.Lys1102Glu)	BCR (K1102E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133572	NM_004327.4(BCR):c.3175G>T (p.Val1059Phe)	BCR (V1059F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133570	NM_004327.4(BCR):c.2993T>G (p.Met998Arg)	BCR (M998R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133569	NM_004327.4(BCR):c.2563G>C (p.Ala855Pro)	BCR (A855P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133568	NM_004327.4(BCR):c.239C>T (p.Ala80Val)	BCR (A80V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133567	NM_004327.4(BCR):c.2213C>T (p.Thr738Ile)	BCR (T738I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133566	NM_004327.4(BCR):c.214C>T (p.Arg72Trp)	BCR (R72W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133564	NM_004327.4(BCR):c.108G>T (p.Glu36Asp)	BCR (E36D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062454	GRCh37/hg19 22q11.22-11.23(chr22:22962196-23653963)x3	BCR, GGTLC2 +5 more	Copy number gain	not specified	GUncertain significance
Select item 2685674	GRCh37/hg19 22q11.21-11.23(chr22:21916217-24060551)x1	IGLC1, IGLL1 +23 more	Copy number loss	not provided	GPathogenic
Select item 2684931	GRCh37/hg19 22q11.21-11.23(chr22:21798907-23652586)x3	BCR, CCDC116 +23 more	Copy number gain	not provided	GPathogenic
Select item 2672922	GRCh37/hg19 22q11.22-11.23(chr22:22989453-25019883)x3	ADORA2A, BCR +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 2663782	NC_000022.10:g.(?_21797384)_(23630313_?)del	BCR, CCDC116 +23 more	Deletion	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 2652965	NM_004327.4(BCR):c.3322+128T>C	BCR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2652964	NM_004327.4(BCR):c.3132G>A (p.Pro1044=)	BCR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652963	NM_004327.4(BCR):c.3055G>A (p.Val1019Ile)	BCR (V1019I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2652962	NM_004327.4(BCR):c.2783-15C>T	BCR, LOC107963955	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2652961	NM_004327.4(BCR):c.2782+511G>A	BCR, LOC107963955	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2652960	NM_004327.4(BCR):c.2708-69A>G	BCR, LOC107963955	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2652959	NM_004327.4(BCR):c.2707+11_2707+12dup	BCR	Duplication (intron variant)	not provided	GLikely benign
Select item 2652958	NM_004327.4(BCR):c.1607C>T (p.Pro536Leu)	BCR (P536L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652957	NM_004327.4(BCR):c.393C>A (p.Ala131=)	BCR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2613974	NM_004327.4(BCR):c.1275C>G (p.Asp425Glu)	BCR (D425E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604169	NM_004327.4(BCR):c.2095A>G (p.Met699Val)	BCR, LOC107963947 (M699V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603635	NM_004327.4(BCR):c.2394C>G (p.Ile798Met)	BCR (I798M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595129	NM_004327.4(BCR):c.577G>A (p.Asp193Asn)	BCR (D193N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593737	NM_004327.4(BCR):c.281C>T (p.Ala94Val)	BCR (A94V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580295	GRCh37/hg19 22q11.23(chr22:23658260-25114888)x3	ADORA2A, BCR +26 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 2578929	GRCh37/hg19 22q11.22-11.23(chr22:22989224-23657709)x1	BCR, GGTLC2 +5 more	Copy number loss	not provided	GUncertain significance
Select item 2556521	NM_004327.4(BCR):c.920A>G (p.Lys307Arg)	BCR (K307R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551028	NM_004327.4(BCR):c.2686C>A (p.Pro896Thr)	BCR (P896T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547575	NM_004327.4(BCR):c.884C>A (p.Pro295Gln)	BCR (P295Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544263	NM_004327.4(BCR):c.818C>A (p.Pro273His)	BCR (P273H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537955	NM_004327.4(BCR):c.1661A>G (p.Tyr554Cys)	BCR (Y554C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533883	NM_004327.4(BCR):c.1952C>T (p.Thr651Met)	BCR (T651M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526650	NM_004327.4(BCR):c.950C>A (p.Ser317Tyr)	BCR (S317Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523339	NM_004327.4(BCR):c.209A>G (p.Tyr70Cys)	BCR (Y70C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522204	NM_004327.4(BCR):c.344C>T (p.Ala115Val)	BCR (A115V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506549	GRCh37/hg19 22q11.22-11.23(chr22:22893189-24177119)	BCR, C22orf15 +16 more	Copy number loss	Schwannomatosis 1	GPathogenic
Select item 2490647	NM_004327.4(BCR):c.757C>T (p.Pro253Ser)	BCR (P253S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472907	NM_004327.4(BCR):c.3287C>T (p.Thr1096Met)	BCR (T1096M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469566	NM_004327.4(BCR):c.3808G>A (p.Glu1270Lys)	BCR (E1226K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463682	NM_004327.4(BCR):c.1393C>A (p.His465Asn)	BCR (H465N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408925	NM_004327.4(BCR):c.1142G>A (p.Ser381Asn)	BCR (S381N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408190	NM_004327.4(BCR):c.260C>G (p.Ala87Gly)	BCR (A87G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408021	NM_004327.4(BCR):c.1588G>A (p.Ala530Thr)	BCR (A530T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406111	NM_004327.4(BCR):c.454G>A (p.Ala152Thr)	BCR (A152T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404412	NM_004327.4(BCR):c.2019G>C (p.Leu673Phe)	BCR (L673F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391804	NM_004327.4(BCR):c.1286C>T (p.Ser429Leu)	BCR (S429L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374757	NM_004327.4(BCR):c.500A>C (p.Gln167Pro)	BCR (Q167P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373585	NM_004327.4(BCR):c.787G>A (p.Ala263Thr)	BCR (A263T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372065	NM_004327.4(BCR):c.3638G>A (p.Arg1213Gln)	BCR (R1169Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370933	NM_004327.4(BCR):c.2365A>T (p.Ile789Phe)	BCR (I789F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368133	NM_004327.4(BCR):c.232C>T (p.Arg78Trp)	BCR (R78W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352149	NM_004327.4(BCR):c.1367T>C (p.Ile456Thr)	BCR (I456T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351154	NM_004327.4(BCR):c.3752A>G (p.Gln1251Arg)	BCR (Q1207R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350343	NM_004327.4(BCR):c.3730C>G (p.Gln1244Glu)	BCR (Q1244E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340905	NM_004327.4(BCR):c.395G>T (p.Arg132Leu)	BCR (R132L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340065	NM_004327.4(BCR):c.1187C>T (p.Pro396Leu)	BCR (P396L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338575	NM_004327.4(BCR):c.3020C>T (p.Pro1007Leu)	BCR (P1007L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336462	NM_004327.4(BCR):c.3728T>A (p.Val1243Asp)	BCR (V1199D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333732	NM_004327.4(BCR):c.760C>T (p.Arg254Cys)	BCR (R254C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332176	NM_004327.4(BCR):c.831G>C (p.Gln277His)	BCR (Q277H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322127	NM_004327.4(BCR):c.581A>G (p.Lys194Arg)	BCR (K194R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318755	NM_004327.4(BCR):c.967G>A (p.Asp323Asn)	BCR (D323N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313872	NM_004327.4(BCR):c.1085T>C (p.Met362Thr)	BCR (M362T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305300	NM_004327.4(BCR):c.877A>G (p.Lys293Glu)	BCR (K293E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305183	NM_004327.4(BCR):c.310G>A (p.Gly104Arg)	BCR (G104R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303900	NM_004327.4(BCR):c.3499C>G (p.Leu1167Val)	BCR (L1123V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263490	NM_004327.4(BCR):c.758C>T (p.Pro253Leu)	BCR (P253L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244850	NM_004327.4(BCR):c.3778A>G (p.Ser1260Gly)	BCR (S1260G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220165	NM_004327.4(BCR):c.3775G>A (p.Asp1259Asn)	BCR (D1215N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219297	NM_004327.4(BCR):c.1996G>T (p.Ala666Ser)	BCR (A666S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2205006	NM_004327.4(BCR):c.3445G>T (p.Ala1149Ser)	BCR (A1105S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879569	GRCh37/hg19 22q11.22-11.23(chr22:22988816-23657709)x1	BCR, GGTLC2 +5 more	Copy number loss	not provided	GUncertain significance
Select item 1808733	GRCh37/hg19 22q11.22-11.23(chr22:22953515-24995256)x3	ADORA2A, BCR +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808567	GRCh37/hg19 22q11.23(chr22:23650872-25002483)x3	ADORA2A, BCR +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808230	GRCh37/hg19 22q11.22-11.23(chr22:22997929-24995256)x3	ADORA2A, BCR +31 more	Copy number gain	not provided	GPathogenic
Select item 1807709	GRCh37/hg19 22q11.23(chr22:23650201-24992266)x3	ADORA2A, BCR +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 1807704	GRCh37/hg19 22q11.22-11.23(chr22:22997929-23650871)x1	BCR, GNAZ +4 more	Copy number loss	not provided	GLikely pathogenic

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