6598[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 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 59252	GRCh38/hg38 22q11.21-11.23(chr22:21443815-24235645)x1	BCR, C22orf15 +223 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 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 545272	Single allele	DDTL, DERL3 +164 more	Duplication	Schizophrenia	GLikely pathogenic
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 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 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 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 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 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 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 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 59331	GRCh38/hg38 22q11.23(chr22:23285152-24723136)x3	ADORA2A, ADORA2A-AS1 +84 more	Copy number gain	See cases	GUncertain significance
Select item 153399	GRCh38/hg38 22q11.23(chr22:23308686-24647020)x3	ADORA2A, ADORA2A-AS1 +81 more	Copy number gain	See cases	GUncertain significance
Select item 155495	GRCh38/hg38 22q11.23(chr22:23310399-24643051)x3	ADORA2A, ADORA2A-AS1 +81 more	Copy number gain	See cases	GLikely benign
Select item 150614	GRCh38/hg38 22q11.23(chr22:23311976-24669609)x3	ADORA2A, ADORA2A-AS1 +80 more	Copy number gain	See cases	GUncertain significance
Select item 148933	GRCh38/hg38 22q11.23(chr22:23311976-24600238)x3	LOC130067094, LOC130067095 +80 more	Copy number gain	See cases	GUncertain significance
Select item 148633	GRCh38/hg38 22q11.23(chr22:23311976-24644628)x3	ADORA2A, ADORA2A-AS1 +80 more	Copy number gain	See cases	GUncertain significance
Select item 545275	Single allele	DDT, C22orf15 +78 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545274	Single allele	LRRC75B, MIF +78 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 59341	GRCh38/hg38 22q11.23(chr22:23338443-24577664)x3	ADORA2A, ADORA2A-AS1 +74 more	Copy number gain	See cases	GUncertain significance
Select item 59340	GRCh38/hg38 22q11.23(chr22:23338443-24610403)x3	ADORA2A, ADORA2A-AS1 +76 more	Copy number gain	See cases	GUncertain significance
Select item 155560	GRCh38/hg38 22q11.23(chr22:23348201-24647020)x3	LOC130067120, LOC130067121 +76 more	Copy number gain	See cases	GUncertain significance
Select item 59342	GRCh38/hg38 22q11.23(chr22:23354221-24541945)x3	ADORA2A, ADORA2A-AS1 +70 more	Copy number gain	See cases	GUncertain significance
Select item 59343	GRCh38/hg38 22q11.23(chr22:23369950-24669609)x3	ADORA2A, ADORA2A-AS1 +76 more	Copy number gain	See cases	GUncertain significance
Select item 160934	GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3	ADORA2A, ADORA2A-AS1 +74 more	Copy number gain	See cases	GUncertain significance
Select item 33448	GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3	ADORA2A, ADORA2A-AS1 +74 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 59346	GRCh38/hg38 22q11.23(chr22:23414627-24563859)x3	ADORA2A, ADORA2A-AS1 +74 more	Copy number gain	See cases	GUncertain significance
Select item 1213705	NC_000022.11:g.23774226_23859697dup	DERL3, LOC111721701 +3 more	Duplication	Intellectual disability, autosomal dominant 15	GUncertain significance
Select item 674080	NM_003073.3(SMARCB1):c.-485G>A	SMARCB1	Single nucleotide variant	not provided	GBenign
Select item 674081	NM_003073.3(SMARCB1):c.-427C>T	SMARCB1	Single nucleotide variant	not provided	GBenign
Select item 684097	NM_003073.3(SMARCB1):c.-352T>G	SMARCB1	Single nucleotide variant	not provided	GBenign
Select item 1208270	NC_000022.11:g.23786925C>T	SMARCB1	Single nucleotide variant	not provided	GLikely benign
Select item 677083	NM_003073.4(SMARCB1):c.-228G>T	SMARCB1	Single nucleotide variant	not provided	GBenign
Select item 239480	NM_003073.4(SMARCB1):c.-207-?_*338dup1703	DERL3, SMARCB1	Duplication	Schwannomatosis +1 more	GUncertain significance
Select item 900500	NM_003073.5(SMARCB1):c.-184G>A	SMARCB1	Single nucleotide variant (5 prime UTR variant)	Schwannomatosis 1 +2 more	GBenign/Likely benign
Select item 340905	NM_003073.5(SMARCB1):c.-157G>A	SMARCB1	Single nucleotide variant (5 prime UTR variant)	Rhabdoid tumor predisposition syndrome 1 +1 more	GUncertain significance
Select item 340906	NM_003073.5(SMARCB1):c.-149C>T	SMARCB1	Single nucleotide variant (5 prime UTR variant)	Rhabdoid tumor predisposition syndrome +2 more	GUncertain significance
Select item 340907	NM_003073.5(SMARCB1):c.-148T>C	SMARCB1	Single nucleotide variant (5 prime UTR variant)	Rhabdoid tumor predisposition syndrome 1 +1 more	GUncertain significance
Select item 340908	NM_003073.5(SMARCB1):c.-117C>T	SMARCB1	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 340909	NM_003073.5(SMARCB1):c.-115C>T	SMARCB1	Single nucleotide variant (5 prime UTR variant)	Rhabdoid tumor predisposition syndrome 1 +2 more	GBenign/Likely benign
Select item 340910	NM_003073.5(SMARCB1):c.-107A>G	SMARCB1	Single nucleotide variant (5 prime UTR variant)	Schwannomatosis 1 +1 more	GUncertain significance
Select item 903043	NM_003073.5(SMARCB1):c.-83C>T	SMARCB1	Single nucleotide variant (5 prime UTR variant)	Schwannomatosis 1 +1 more	GUncertain significance
Select item 903044	NM_003073.5(SMARCB1):c.-31C>T	SMARCB1	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 340911	NM_003073.5(SMARCB1):c.-17C>T	SMARCB1	Single nucleotide variant (5 prime UTR variant)	Rhabdoid tumor predisposition syndrome 1 +1 more	GBenign
Select item 509953	NM_003073.5(SMARCB1):c.-11C>G	SMARCB1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 664456	NC_000022.11:g.(?_23787160)_(23787272_?)del	SMARCB1	Deletion	not provided	GPathogenic
Select item 664446	NC_000022.11:g.(?_23787160)_(23834190_?)del	SMARCB1	Deletion	not provided	GPathogenic
Select item 583515	NC_000022.10:g.(?_24129347)_(24176377_?)dup	SMARCB1	Duplication	not provided	GUncertain significance
Select item 464313	NC_000022.11:g.(?_23787164)_(23834186_?)del	SMARCB1	Deletion	Rhabdoid tumor predisposition syndrome 1	GPathogenic
Select item 3223085	NM_003073.5(SMARCB1):c.-5C>A	SMARCB1	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1744698	NM_003073.5(SMARCB1):c.-4C>T	SMARCB1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 3320794	NM_003073.5(SMARCB1):c.-3G>A	SMARCB1	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 824487	NM_003073.5(SMARCB1):c.-3G>T	SMARCB1	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2798151	NM_003073.5(SMARCB1):c.-1_2del (p.Met4del)	SMARCB1 (M4del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2482263	NM_003073.5(SMARCB1):c.-1A>C	SMARCB1	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2712544	NM_003073.5(SMARCB1):c.1A>C (p.Met1Leu)	SMARCB1 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 532969	NM_003073.5(SMARCB1):c.1ATG[3] (p.Met4del)	SMARCB1 (M4del)	Microsatellite (inframe_deletion +1 more)	Rhabdoid tumor predisposition syndrome 1 +1 more	GUncertain significance
Select item 135257	NM_003073.5(SMARCB1):c.1A>G (p.Met1Val)	SMARCB1 (M1V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 3320807	NM_003073.5(SMARCB1):c.2T>C (p.Met1Thr)	SMARCB1 (M1T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1507035	NM_003073.5(SMARCB1):c.4A>G (p.Met2Val)	SMARCB1 (M2V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1720691	NM_003073.5(SMARCB1):c.5T>G (p.Met2Arg)	SMARCB1 (M2R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2728217	NM_003073.5(SMARCB1):c.6G>A (p.Met2Ile)	SMARCB1 (M2I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2736303	NM_003073.5(SMARCB1):c.8T>A (p.Met3Lys)	SMARCB1 (M3K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3320795	NM_003073.5(SMARCB1):c.9G>T (p.Met3Ile)	SMARCB1 (M3I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2117361	NM_003073.5(SMARCB1):c.9_10delinsTT (p.Met3_Met4delinsIleLeu)	SMARCB1	Indel (missense variant)	not provided	GUncertain significance
Select item 2664995	NM_003073.5(SMARCB1):c.10del (p.Met4fs)	SMARCB1 (M4fs)	Deletion (frameshift variant)	Schwannomatosis 1	GLikely pathogenic
Select item 2113167	NM_003073.5(SMARCB1):c.10A>T (p.Met4Leu)	SMARCB1 (M4L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1045351	NM_003073.5(SMARCB1):c.11T>C (p.Met4Thr)	SMARCB1 (M4T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2829104	NM_003073.5(SMARCB1):c.13G>T (p.Ala5Ser)	SMARCB1 (A5S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313737	NM_003073.5(SMARCB1):c.13G>C (p.Ala5Pro)	SMARCB1 (A5P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 577312	NM_003073.5(SMARCB1):c.14C>T (p.Ala5Val)	SMARCB1 (A5V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1545418	NM_003073.5(SMARCB1):c.15G>T (p.Ala5=)	SMARCB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2482351	NM_003073.5(SMARCB1):c.16C>G (p.Leu6Val)	SMARCB1 (L6V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2452589	NM_003073.5(SMARCB1):c.16C>T (p.Leu6=)	SMARCB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3239589	NM_003073.5(SMARCB1):c.18G>A (p.Leu6=)	SMARCB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1605408	NM_003073.5(SMARCB1):c.18G>T (p.Leu6=)	SMARCB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1785888	NM_003073.5(SMARCB1):c.20G>T (p.Ser7Ile)	SMARCB1 (S7I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1037645	NM_003073.5(SMARCB1):c.20G>A (p.Ser7Asn)	SMARCB1 (S7N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 820884	NM_003073.5(SMARCB1):c.21C>T (p.Ser7=)	SMARCB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1379500	NM_003073.5(SMARCB1):c.22A>G (p.Lys8Glu)	SMARCB1 (K8E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1790699	NM_003073.5(SMARCB1):c.23A>G (p.Lys8Arg)	SMARCB1 (K8R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1550250	NM_003073.5(SMARCB1):c.24G>A (p.Lys8=)	SMARCB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3240533	NM_003073.5(SMARCB1):c.26C>G (p.Thr9Ser)	SMARCB1 (T9S)	Single nucleotide variant (missense variant)	Rhabdoid tumor predisposition syndrome 1	GUncertain significance
Select item 1662698	NM_003073.5(SMARCB1):c.27C>G (p.Thr9=)	SMARCB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 532987	NM_003073.5(SMARCB1):c.27C>T (p.Thr9=)	SMARCB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 822894	NM_003073.5(SMARCB1):c.30C>T (p.Phe10=)	SMARCB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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