11200[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	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +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 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	LOC130067137, LOC130067138 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067246, LOC130067247 +556 more	Copy number gain	See cases	GPathogenic
Select item 59072	GRCh38/hg38 22q12.1-12.2(chr22:26221273-29477543)x1	AP1B1, ASPHD2 +122 more	Copy number loss	See cases	GPathogenic
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	LOC130067166, LOC130067167 +260 more	Copy number loss	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic
Select item 59056	GRCh38/hg38 22q12.1(chr22:27557778-28988149)x3	CCDC117, CHEK2 +32 more	Copy number gain	See cases	GUncertain significance
Select item 146030	GRCh38/hg38 22q12.1(chr22:27972484-28760350)x1	LOC126863115, CHEK2 +13 more	Copy number loss	See cases	GPathogenic
Select item 59074	GRCh38/hg38 22q12.1-12.2(chr22:28441035-30276511)x1	AP1B1, ASCC2 +89 more	Copy number loss	See cases	GPathogenic
Select item 150220	GRCh38/hg38 22q12.1(chr22:28441053-28819615)x3	CCDC117, CHEK2 +11 more	Copy number gain	See cases	GLikely benign
Select item 155650	GRCh38/hg38 22q12.1(chr22:28649631-28727009)x3	CHEK2, TTC28	Copy number gain	See cases	GUncertain significance
Select item 153917	GRCh38/hg38 22q12.1(chr22:28669349-28727009)x3	CHEK2, TTC28	Copy number gain	See cases	GUncertain significance
Select item 417812	NC_000022.11:g.(?_28687743)_(28741834_?)del	CHEK2, LOC130067165	Deletion	Familial cancer of breast	GPathogenic
Select item 417606	NC_000022.11:g.(?_28687743)_(28687986_?)del	CHEK2	Deletion	Familial cancer of breast	GLikely pathogenic
Select item 417603	NC_000022.11:g.(?_28687743)_(28725367_?)del	CHEK2	Deletion	Familial cancer of breast	GPathogenic
Select item 240748	NM_007194.3(CHEK2):c.593-?_*154dup1194	CHEK2	Duplication	Familial cancer of breast	GUncertain significance
Select item 1679028	NM_007194.4(CHEK2):c.*76dup	CHEK2	Duplication (3 prime UTR variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 341054	NM_007194.4(CHEK2):c.*59C>T	CHEK2	Single nucleotide variant (3 prime UTR variant)	CHEK2-Related Cancer Susceptibility	GUncertain significance
Select item 900139	NM_007194.4(CHEK2):c.*48A>T	CHEK2	Single nucleotide variant (3 prime UTR variant)	CHEK2-Related Cancer Susceptibility	GUncertain significance
Select item 900140	NM_007194.4(CHEK2):c.*26A>G	CHEK2	Single nucleotide variant (3 prime UTR variant)	CHEK2-Related Cancer Susceptibility	GUncertain significance
Select item 388285	NM_007194.4(CHEK2):c.*19G>A	CHEK2	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 136747	NM_007194.4(CHEK2):c.*18C>T	CHEK2	Single nucleotide variant (3 prime UTR variant)	CHEK2-Related Cancer Susceptibility +5 more	GConflicting classifications of pathogenicity
Select item 386940	NM_007194.4(CHEK2):c.*16C>T	CHEK2	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 925314	NM_007194.4(CHEK2):c.*10T>G	CHEK2	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 661739	NC_000022.11:g.(?_28687887)_(28696997_?)del	CHEK2	Deletion	Familial cancer of breast	GPathogenic
Select item 658442	NC_000022.11:g.(?_28687887)_(28710069_?)del	CHEK2	Deletion	Familial cancer of breast	GPathogenic
Select item 653508	NC_000022.10:g.(?_29083875)_(29099564_?)dup	CHEK2	Duplication	Familial cancer of breast	GUncertain significance
Select item 649067	NC_000022.11:g.(?_28687887)_(28719495_?)del	CHEK2	Deletion	Familial cancer of breast	GPathogenic
Select item 644823	NC_000022.11:g.(?_28687887)_(28734731_?)del	CHEK2	Deletion	Familial cancer of breast	GPathogenic
Select item 644279	NC_000022.11:g.(?_28687887)_(28687996_?)del	CHEK2	Deletion	Familial cancer of breast	GLikely pathogenic
Select item 583775	NC_000022.10:g.(?_29083875)_(29085213_?)dup	CHEK2	Duplication	Familial cancer of breast	GUncertain significance
Select item 583764	NC_000022.10:g.(?_29083875)_(29115483_?)dup	CHEK2	Duplication	Familial cancer of breast	GUncertain significance
Select item 132820	NM_007194.4(CHEK2):c.*7T>C	CHEK2	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 584001	NC_000022.10:g.(?_29083879)_(29095931_?)dup	CHEK2	Duplication	Familial cancer of breast	GUncertain significance
Select item 530273	NC_000022.11:g.(?_28687891)_(28734727_?)del	CHEK2	Deletion	Familial cancer of breast	GPathogenic
Select item 460666	NC_000022.11:g.(?_28687891)_(28703572_?)del	CHEK2	Deletion	Familial cancer of breast	GPathogenic
Select item 460665	NC_000022.11:g.(?_28687891)_(28696993_?)del	CHEK2	Deletion	Familial cancer of breast	GPathogenic
Select item 460664	NC_000022.11:g.(?_28687891)_(28689221_?)del	CHEK2	Deletion	Familial cancer of breast	GLikely pathogenic
Select item 379159	NM_007194.4(CHEK2):c.*6G>A	CHEK2	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GLikely benign
Select item 140914	NM_007194.4(CHEK2):c.*5C>T	CHEK2	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 185054	NM_007194.4(CHEK2):c.*2dup	CHEK2	Duplication (3 prime UTR variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2775060	NM_007194.4(CHEK2):c.*2C>A	CHEK2	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 485519	NM_007194.4(CHEK2):c.*2C>T	CHEK2	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 216644	NM_007194.4(CHEK2):c.320-?_*(1_?)dup	CHEK2	Duplication	Familial cancer of breast	GUncertain significance
Select item 2034780	NM_007194.4(CHEK2):c.1632A>T (p.Ter544Cys)	CHEK2	Single nucleotide variant (stop lost)	Familial cancer of breast	GUncertain significance
Select item 1377918	NM_007194.4(CHEK2):c.1630T>C (p.Ter544Arg)	CHEK2	Single nucleotide variant (stop lost)	Familial cancer of breast +1 more	GUncertain significance
Select item 964642	NM_007194.4(CHEK2):c.1630T>G (p.Ter544Gly)	CHEK2	Single nucleotide variant (stop lost)	Familial cancer of breast	GUncertain significance
Select item 2846123	NM_007194.4(CHEK2):c.1629G>A (p.Leu543=)	CHEK2	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GLikely benign
Select item 2771160	NM_007194.4(CHEK2):c.1628T>A (p.Leu543Ter)	CHEK2 (L476* +4 more)	Single nucleotide variant (nonsense)	Familial cancer of breast	GUncertain significance
Select item 1466164	NM_007194.4(CHEK2):c.1628T>C (p.Leu543Ser)	CHEK2 (L586S +4 more)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 566783	NM_007194.4(CHEK2):c.1616_1627dup (p.Cys539_Val542dup)	CHEK2	Duplication (inframe_insertion)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 945806	NM_007194.4(CHEK2):c.1627T>G (p.Leu543Val)	CHEK2 (L322V +4 more)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 1571969	NM_007194.4(CHEK2):c.1626G>A (p.Val542=)	CHEK2	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GLikely benign
Select item 1507744	NM_007194.4(CHEK2):c.1625T>C (p.Val542Ala)	CHEK2 (V321A +4 more)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 1776669	NM_007194.4(CHEK2):c.1624G>A (p.Val542Met)	CHEK2 (V321M +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 530240	NM_007194.4(CHEK2):c.1623T>G (p.Ala541=)	CHEK2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 219387	NM_007194.4(CHEK2):c.1623T>C (p.Ala541=)	CHEK2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 922650	NM_007194.4(CHEK2):c.1622C>T (p.Ala541Val)	CHEK2 (A512V +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 819677	NM_007194.4(CHEK2):c.1620T>G (p.Ala540=)	CHEK2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 483364	NM_007194.4(CHEK2):c.1620T>C (p.Ala540=)	CHEK2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 584521	NM_007194.4(CHEK2):c.1619C>T (p.Ala540Val)	CHEK2 (A540V +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 819676	NM_007194.4(CHEK2):c.1618G>T (p.Ala540Ser)	CHEK2 (A319S +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 232464	NM_007194.4(CHEK2):c.1618G>A (p.Ala540Thr)	CHEK2 (A540T +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2851600	NM_007194.4(CHEK2):c.1617T>C (p.Cys539=)	CHEK2	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GLikely benign
Select item 1381609	NM_007194.4(CHEK2):c.1616G>T (p.Cys539Phe)	CHEK2 (C539F +4 more)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 566273	NM_007194.4(CHEK2):c.1616G>A (p.Cys539Tyr)	CHEK2 (C539Y +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2775061	NM_007194.4(CHEK2):c.1614G>C (p.Val538=)	CHEK2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1776461	NM_007194.4(CHEK2):c.1614G>T (p.Val538=)	CHEK2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 460815	NM_007194.4(CHEK2):c.1614G>A (p.Val538=)	CHEK2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +1 more	GLikely benign
Select item 844678	NM_007194.4(CHEK2):c.1612G>T (p.Val538Leu)	CHEK2 (V471L +4 more)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 421160	NM_007194.4(CHEK2):c.1612G>A (p.Val538Met)	CHEK2 (V538M +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 382258	NM_007194.4(CHEK2):c.1611T>A (p.Ala537=)	CHEK2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 2707002	NM_007194.4(CHEK2):c.1610del (p.Ala537fs)	CHEK2 (A470fs +4 more)	Deletion (frameshift variant)	Familial cancer of breast	GUncertain significance
Select item 846622	NM_007194.4(CHEK2):c.1610C>A (p.Ala537Asp)	CHEK2 (A470D +4 more)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 422506	NM_007194.4(CHEK2):c.1610C>T (p.Ala537Val)	CHEK2 (A537V +4 more)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 1410892	NM_007194.4(CHEK2):c.1609G>A (p.Ala537Thr)	CHEK2 (A537T +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 183961	NM_007194.4(CHEK2):c.1608A>G (p.Pro536=)	CHEK2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 952711	NM_007194.4(CHEK2):c.1607C>T (p.Pro536Leu)	CHEK2 (P507L +4 more)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GConflicting classifications of pathogenicity
Select item 819634	NM_007194.4(CHEK2):c.1607C>G (p.Pro536Arg)	CHEK2 (P536R +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 460814	NM_007194.4(CHEK2):c.1607del (p.Pro536fs)	CHEK2 (P315fs +4 more)	Deletion (frameshift variant)	Familial cancer of breast	GUncertain significance
Select item 1776291	NM_007194.4(CHEK2):c.1606C>T (p.Pro536Ser)	CHEK2 (P507S +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1776260	NM_007194.4(CHEK2):c.1605C>T (p.Arg535=)	CHEK2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 128067	NM_007194.4(CHEK2):c.1604G>A (p.Arg535His)	CHEK2 (R535H +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1375581	NM_007194.4(CHEK2):c.1583_1602dup (p.Pro536fs)	CHEK2 (P536fs +4 more)	Duplication (frameshift variant)	Familial cancer of breast	GUncertain significance
Select item 182442	NM_007194.4(CHEK2):c.1603C>T (p.Arg535Cys)	CHEK2 (R535C +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 628575	NM_007194.4(CHEK2):c.1602G>A (p.Lys534=)	CHEK2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2586658	NM_007194.4(CHEK2):c.1601del (p.Lys534fs)	CHEK2 (K313fs +4 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1448398	NM_007194.4(CHEK2):c.1600A>C (p.Lys534Gln)	CHEK2 (K313Q +4 more)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 460813	NM_007194.4(CHEK2):c.1600A>G (p.Lys534Glu)	CHEK2 (K534E +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1984594	NM_007194.4(CHEK2):c.1598C>T (p.Thr533Ile)	CHEK2 (T312I +4 more)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 1776042	NM_007194.4(CHEK2):c.1598del (p.Thr533fs)	CHEK2 (T466fs +4 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 576728	NM_007194.4(CHEK2):c.1598C>G (p.Thr533Arg)	CHEK2 (T533R +4 more)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 628755	NM_007194.4(CHEK2):c.1597A>T (p.Thr533Ser)	CHEK2 (T533S +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 142032	NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala)	CHEK2 (T533A +4 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2566531	NM_007194.4(CHEK2):c.1596C>T (p.Thr532=)	CHEK2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1626663	NM_007194.4(CHEK2):c.1596C>A (p.Thr532=)	CHEK2	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GLikely benign
Select item 141133	NM_007194.4(CHEK2):c.1596del (p.Thr533fs)	CHEK2 (T312fs +4 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 230806	NM_007194.4(CHEK2):c.1593G>A (p.Glu531=)	CHEK2	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity

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