613[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 59279	GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3	LOC130067034, LOC130067035 +535 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 152705	GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1	AIFM3, ARVCF +378 more	Copy number loss	See cases	GPathogenic
Select item 147737	GRCh38/hg38 22q11.21-11.23(chr22:20726972-24197852)x1	AIFM3, BCR +265 more	Copy number loss	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 149700	GRCh38/hg38 22q11.21-11.23(chr22:21207181-24247140)x3	BCR, C22orf15 +229 more	Copy number gain	See cases	GUncertain significance
Select item 59326	GRCh38/hg38 22q11.21-11.23(chr22:21386914-23305976)x3	BCR, CCDC116 +177 more	Copy number gain	See cases	GPathogenic
Select item 59253	GRCh38/hg38 22q11.21-11.23(chr22:21443815-23397298)x1	BCR, CCDC116 +180 more	Copy number loss	See cases	GPathogenic
Select item 59252	GRCh38/hg38 22q11.21-11.23(chr22:21443815-24235645)x1	BCR, C22orf15 +223 more	Copy number loss	See cases	GPathogenic
Select item 148699	GRCh38/hg38 22q11.21-11.23(chr22:21454661-23312035)x1	LOC129929044, LOC129929045 +176 more	Copy number loss	See cases	GPathogenic
Select item 148615	GRCh38/hg38 22q11.21-11.23(chr22:21454661-24247140)x1	BCR, C22orf15 +223 more	Copy number loss	See cases	GPathogenic
Select item 146442	GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x1	BCR, CCDC116 +179 more	Copy number loss	See cases	GPathogenic
Select item 59327	GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x3	BCR, CCDC116 +179 more	Copy number gain	See cases	GPathogenic
Select item 59264	GRCh38/hg38 22q11.21-11.23(chr22:21457690-24220231)x1	BCR, C22orf15 +222 more	Copy number loss	See cases	GPathogenic
Select item 59267	GRCh38/hg38 22q11.21-11.23(chr22:21562911-24307688)x1	BCR, C22orf15 +227 more	Copy number loss	See cases	GPathogenic
Select item 59283	GRCh38/hg38 22q11.21-11.23(chr22:21623411-23315617)x1	BCR, CCDC116 +168 more	Copy number loss	See cases	GPathogenic
Select item 545272	Single allele	DDTL, DERL3 +164 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545273	NC_000022.11:g.(?_22638171)_(23320336_?)del	IGLL5, IGLV2-11 +85 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 59284	GRCh38/hg38 22q11.22-11.23(chr22:22651209-23299955)x1	BCR, GNAZ +81 more	Copy number loss	See cases	GPathogenic
Select item 155683	GRCh38/hg38 22q11.22-11.23(chr22:22655333-24647020)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 155394	GRCh38/hg38 22q11.22-11.23(chr22:22655333-23310325)x1	BCR, GNAZ +81 more	Copy number loss	See cases	GUncertain significance
Select item 154068	GRCh38/hg38 22q11.22-11.23(chr22:22655333-24630890)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 153611	GRCh38/hg38 22q11.22-11.23(chr22:22655333-24663664)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 154210	GRCh38/hg38 22q11.22-11.23(chr22:22655458-23308687)x1	LOC129929045, LOC130067057 +81 more	Copy number loss	See cases	GUncertain significance
Select item 59285	GRCh38/hg38 22q11.22-11.23(chr22:22660238-23305976)x1	BCR, GNAZ +81 more	Copy number loss	See cases	GPathogenic
Select item 155280	GRCh38/hg38 22q11.22-11.23(chr22:22660239-23312035)x3	BCR, GNAZ +82 more	Copy number gain	See cases	GUncertain significance
Select item 154918	GRCh38/hg38 22q11.22-11.23(chr22:22660239-23306603)x1	BCR, GNAZ +81 more	Copy number loss	See cases	GLikely benign
Select item 149196	GRCh38/hg38 22q11.22-11.23(chr22:22660239-24596054)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 148729	GRCh38/hg38 22q11.22-11.23(chr22:22660239-24600238)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 148336	GRCh38/hg38 22q11.22-11.23(chr22:22660239-24644628)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 160821	GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3	ADORA2A, ADORA2A-AS1 +160 more	Copy number gain	See cases	GUncertain significance
Select item 154587	GRCh38/hg38 22q11.22-11.23(chr22:22669543-23301036)x1	BCR, GNAZ +80 more	Copy number loss	See cases	GUncertain significance
Select item 147327	GRCh38/hg38 22q11.22-11.23(chr22:22669543-23301036)x3	BCR, GNAZ +80 more	Copy number gain	See cases	GUncertain significance
Select item 146012	GRCh38/hg38 22q11.22-11.23(chr22:22669543-23300977)x3	BCR, GNAZ +80 more	Copy number gain	See cases	GPathogenic
Select item 33061	GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3	ADORA2A, ADORA2A-AS1 +160 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 150643	GRCh38/hg38 22q11.22-11.23(chr22:22669599-23312050)x1	LOC130067089, LOC130067090 +81 more	Copy number loss	See cases	GPathogenic
Select item 146821	GRCh38/hg38 22q11.22-11.23(chr22:22669599-24670517)x3	DRICH1, FAM230I +162 more	Copy number gain	See cases	GUncertain significance
Select item 59329	GRCh38/hg38 22q11.22-11.23(chr22:22686122-24577664)x3	IGLV3-22, IGLV3-25 +160 more	Copy number gain	See cases	GUncertain significance
Select item 59286	GRCh38/hg38 22q11.22-11.23(chr22:22686122-23315617)x1	BCR, GNAZ +82 more	Copy number loss	See cases	GPathogenic
Select item 59330	GRCh38/hg38 22q11.22-11.23(chr22:22703701-24669609)x3	ADORA2A, ADORA2A-AS1 +157 more	Copy number gain	See cases	GUncertain significance
Select item 59287	GRCh38/hg38 22q11.22-11.23(chr22:22703701-23285204)x1	BCR, GNAZ +73 more	Copy number loss	See cases	GPathogenic
Select item 155476	GRCh38/hg38 22q11.22-11.23(chr22:22920775-24606692)x3	ADORA2A, ADORA2A-AS1 +124 more	Copy number gain	See cases	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 779478	NM_004327.4(BCR):c.138G>T (p.Glu46Asp)	BCR (E46D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 719837	NM_004327.4(BCR):c.162C>T (p.Phe54=)	BCR	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3133566	NM_004327.4(BCR):c.214C>T (p.Arg72Trp)	BCR (R72W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746123	NM_004327.4(BCR):c.216G>T (p.Arg72=)	BCR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3133568	NM_004327.4(BCR):c.239C>T (p.Ala80Val)	BCR (A80V)	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 2593737	NM_004327.4(BCR):c.281C>T (p.Ala94Val)	BCR (A94V)	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 2522204	NM_004327.4(BCR):c.344C>T (p.Ala115Val)	BCR (A115V)	Single nucleotide variant (missense variant)	not specified	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 2340905	NM_004327.4(BCR):c.395G>T (p.Arg132Leu)	BCR (R132L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725929	NM_004327.4(BCR):c.395G>C (p.Arg132Pro)	BCR (R132P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 708500	NM_004327.4(BCR):c.455C>T (p.Ala152Val)	BCR (A152V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 720879	NM_004327.4(BCR):c.497G>A (p.Gly166Asp)	BCR (G166D)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3133576	NM_004327.4(BCR):c.552C>A (p.His184Gln)	BCR (H184Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 761223	NM_004327.4(BCR):c.564G>A (p.Leu188=)	BCR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2322127	NM_004327.4(BCR):c.581A>G (p.Lys194Arg)	BCR (K194R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780633	NM_004327.4(BCR):c.606C>T (p.Ser202=)	BCR	Single nucleotide variant (synonymous variant)	Acute lymphoid leukemia +2 more	GBenign/Likely benign
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 3133578	NM_004327.4(BCR):c.655G>A (p.Ala219Thr)	BCR (A219T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 625895	NM_004327.4(BCR):c.685C>T (p.Pro229Ser)	BCR (P229S)	Single nucleotide variant (missense variant)	Chronic myelogenous leukemia, BCR-ABL1 positive +1 more	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 734525	NM_004327.4(BCR):c.693C>T (p.Tyr231=)	BCR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 759154	NM_004327.4(BCR):c.714C>T (p.Ser238=)	BCR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 762892	NM_004327.4(BCR):c.744C>T (p.Asp248=)	BCR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2263490	NM_004327.4(BCR):c.758C>T (p.Pro253Leu)	BCR (P253L)	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 2373585	NM_004327.4(BCR):c.787G>A (p.Ala263Thr)	BCR (A263T)	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 788928	NM_004327.4(BCR):c.822G>A (p.Leu274=)	BCR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 738877	NM_004327.4(BCR):c.825G>A (p.Glu275=)	BCR	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2305300	NM_004327.4(BCR):c.877A>G (p.Lys293Glu)	BCR (K293E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2547575	NM_004327.4(BCR):c.884C>A (p.Pro295Gln)	BCR (P295Q)	Single nucleotide variant (missense variant)	not specified	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 717117	NM_004327.4(BCR):c.922C>T (p.Arg308Cys)	BCR (R308C)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2318755	NM_004327.4(BCR):c.967G>A (p.Asp323Asn)	BCR (D323N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 757558	NM_004327.4(BCR):c.987C>T (p.Thr329=)	BCR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 634479	NM_004327.4(BCR):c.1034_1036del (p.Phe345del)	BCR (F345del)	Deletion (inframe_deletion)	not specified	GUncertain significance
Select item 765670	NM_004327.4(BCR):c.1062C>G (p.Ser354=)	BCR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2408925	NM_004327.4(BCR):c.1142G>A (p.Ser381Asn)	BCR (S381N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 626065	NM_004327.4(BCR):c.1149C>T (p.Pro383=)	BCR	Single nucleotide variant (synonymous variant)	Chronic myelogenous leukemia, BCR-ABL1 positive +1 more	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 732727	NM_004327.4(BCR):c.1239C>G (p.Ile413Met)	BCR (I413M)	Single nucleotide variant (missense 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

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