CD22[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 more	Copy number loss	See cases	GPathogenic
Select item 2400743	NM_001771.4(CD22):c.13G>A (p.Gly5Ser)	CD22 (G5S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261970	NM_001771.4(CD22):c.92C>T (p.Thr31Ile)	CD22 (T31I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2649717	NM_001771.4(CD22):c.117C>T (p.Cys39=)	CD22	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2494722	NM_001771.4(CD22):c.206C>T (p.Ser69Leu)	CD22 (S69L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367560	NM_001771.4(CD22):c.289G>T (p.Asp97Tyr)	CD22 (D97Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512642	NM_001771.4(CD22):c.445C>T (p.Pro149Ser)	CD22 (P149S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294447	NM_001771.4(CD22):c.455A>G (p.Gln152Arg)	CD22 (Q152R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2264482	NM_001771.4(CD22):c.512C>T (p.Pro171Leu)	CD22 (P171L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214760	NM_001771.4(CD22):c.565A>G (p.Thr189Ala)	CD22 (T189A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462189	NM_001771.4(CD22):c.569C>T (p.Ser190Leu)	CD22 (S190L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2321915	NM_001771.4(CD22):c.605G>A (p.Ser202Asn)	CD22 (S30N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140450	NM_001771.4(CD22):c.606C>A (p.Ser202Arg)	CD22 (S30R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324986	NM_001771.4(CD22):c.613A>C (p.Lys205Gln)	CD22 (K33Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140451	NM_001771.4(CD22):c.649G>A (p.Val217Met)	CD22 (V217M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140452	NM_001771.4(CD22):c.656G>T (p.Cys219Phe)	CD22 (C219F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789907	NM_001771.4(CD22):c.795C>T (p.Cys265=)	CD22	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2569219	NM_001771.4(CD22):c.796G>A (p.Glu266Lys)	CD22 (E266K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2491021	NM_001771.4(CD22):c.799G>A (p.Val267Ile)	CD22 (V267I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370557	NM_001771.4(CD22):c.887T>A (p.Leu296Gln)	CD22 (L124Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 992557	NM_001771.4(CD22):c.892G>A (p.Glu298Lys)	CD22 (E126K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2614912	NM_001771.4(CD22):c.904G>A (p.Asp302Asn)	CD22 (D302N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258539	NM_001771.4(CD22):c.967G>A (p.Val323Met)	CD22 (V151M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370558	NM_001771.4(CD22):c.984G>C (p.Gln328His)	CD22 (Q156H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570108	NM_001771.4(CD22):c.1025C>T (p.Pro342Leu)	CD22 (P170L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232228	NM_001771.4(CD22):c.1073A>G (p.Asn358Ser)	CD22 (N358S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315617	NM_001771.4(CD22):c.1074T>G (p.Asn358Lys)	CD22 (N358K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782645	NM_001771.4(CD22):c.1171G>A (p.Ala391Thr)	CD22 (A219T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3140444	NM_001771.4(CD22):c.1228G>A (p.Gly410Arg)	CD22 (G410R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140445	NM_001771.4(CD22):c.1292C>T (p.Pro431Leu)	CD22 (P254L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140446	NM_001771.4(CD22):c.1381G>A (p.Ala461Thr)	CD22 (A284T +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2295058	NM_001771.4(CD22):c.1492G>T (p.Ala498Ser)	CD22 (A326S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 625910	NM_001771.4(CD22):c.1552G>A (p.Glu518Lys)	CD22 (E341K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3140447	NM_001771.4(CD22):c.1559A>C (p.His520Pro)	CD22 (H343P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237371	NM_001771.4(CD22):c.1593C>A (p.Phe531Leu)	CD22 (F531L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791357	NM_001771.4(CD22):c.1651G>A (p.Gly551Arg)	CD22 (G374R +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2306234	NM_001771.4(CD22):c.1685C>G (p.Ser562Cys)	CD22 (S474C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508668	NM_001771.4(CD22):c.1805C>T (p.Pro602Leu)	CD22 (P430L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220003	NM_001771.4(CD22):c.1855G>A (p.Asp619Asn)	CD22 (D442N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374513	NM_001771.4(CD22):c.1862A>G (p.Asn621Ser)	CD22 (N449S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320375	NM_001771.4(CD22):c.1874C>A (p.Ser625Tyr)	CD22 (S537Y +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3140448	NM_001771.4(CD22):c.1876C>T (p.His626Tyr)	CD22 (H626Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386665	NM_001771.4(CD22):c.1963G>T (p.Gly655Cys)	CD22 (G655C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517099	NM_001771.4(CD22):c.1966G>A (p.Ala656Thr)	CD22 (A568T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295686	NM_001771.4(CD22):c.1979A>G (p.Gln660Arg)	CD22 (Q572R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616045	NM_001771.4(CD22):c.1996G>A (p.Gly666Ser)	CD22 (G489S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 626074	NM_001771.4(CD22):c.2006G>A (p.Arg669His)	CD22 (R492H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 719268	NM_001771.4(CD22):c.2043G>A (p.Pro681=)	CD22	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2394041	NM_001771.4(CD22):c.2143A>T (p.Thr715Ser)	CD22 (T538S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735786	NM_001771.4(CD22):c.2179G>A (p.Gly727Ser)	CD22 (G639S +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 723866	NM_001771.4(CD22):c.2209-8C>T	CD22, MIR5196	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2274941	NM_001771.4(CD22):c.2230G>C (p.Glu744Gln)	CD22, MIR5196 (E744Q +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2248121	NM_001771.4(CD22):c.2348T>C (p.Met783Thr)	CD22 (M783T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2485984	NM_001771.4(CD22):c.2374G>A (p.Asp792Asn)	CD22 (D704N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311101	NM_001771.4(CD22):c.2378C>T (p.Thr793Met)	CD22 (T616M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568864	NM_001771.4(CD22):c.2404C>T (p.Arg802Cys)	CD22 (R625C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140449	NM_001771.4(CD22):c.2416G>A (p.Asp806Asn)	CD22, LOC130064230 (D634N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219090	NM_001771.4(CD22):c.2452G>A (p.Glu818Lys)	CD22, LOC130064230 (E730K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526051	NM_001771.4(CD22):c.2455G>A (p.Gly819Arg)	CD22, LOC130064230 (G642R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350698	NM_001771.4(CD22):c.2491G>A (p.Gly831Arg)	CD22 (G743R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	FXYD5, FXYD7 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1412985	NC_000019.9:g.(?_35521725)_(36643309_?)del	PSENEN, RBM42 +54 more	Deletion	Brugada syndrome 5	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 816077	GRCh37/hg19 19q13.12(chr19:35811335-35898248)x1	FFAR3, CD22 +2 more	Copy number loss	not provided	GUncertain significance
Select item 812929	Single allele	MAG, FXYD5 +33 more	Deletion	Dystonic disorder	GPathogenic
Select item 685279	GRCh37/hg19 19q13.12(chr19:35613953-36183886)x1	ATP4A, CD22 +24 more	Copy number loss	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 625761	GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644)	ARHGAP33, ATP4A +44 more	Copy number loss	not provided	GPathogenic
Select item 625760	GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)	ALKBH6, APLP1 +79 more	Copy number loss	Generalized epilepsy with febrile seizures plus, type 1	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394109	GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3	ANKRD27, ATP4A +58 more	Copy number gain	See cases	GPathogenic
Select item 221398	GRCh37/hg19 19q13.12(chr19:35516999-35990896)x3	CD22, DMKN +18 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 78