ClinVar for Gene (Select 150274) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284839	NM_172002.5(HSCB):c.121T>C (p.Cys41Arg)	HSCB (C41R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284838	NM_172002.5(HSCB):c.684C>G (p.Ile228Met)	HSCB (I228M +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3284837	NM_172002.5(HSCB):c.296G>A (p.Arg99His)	HSCB (R99H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3247093	NC_000022.10:g.(?_29083885)_(30090791_?)del	AP1B1, C22orf31 +17 more	Deletion	Neurofibromatosis, type 2	GPathogenic
Select item 3107068	NM_172002.5(HSCB):c.656G>C (p.Arg219Thr)	HSCB (R219T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3107067	NM_172002.5(HSCB):c.650A>G (p.Lys217Arg)	HSCB (K217R +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3107066	NM_172002.5(HSCB):c.517G>A (p.Ala173Thr)	HSCB (A173T +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3107065	NM_172002.5(HSCB):c.389C>A (p.Thr130Asn)	HSCB (T130N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2620898	NM_172002.5(HSCB):c.194A>G (p.Gln65Arg)	HSCB (Q65R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604667	NM_172002.5(HSCB):c.322C>G (p.Gln108Glu)	HSCB (Q108E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544789	NM_172002.5(HSCB):c.682A>G (p.Ile228Val)	HSCB (I228V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2513843	NM_172002.5(HSCB):c.14G>C (p.Arg5Thr)	HSCB (R5T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511813	NM_172002.5(HSCB):c.703C>T (p.Leu235Phe)	HSCB (L235F +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2487990	NM_172002.5(HSCB):c.654G>T (p.Met218Ile)	HSCB (M62I +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2484755	NM_172002.5(HSCB):c.559A>G (p.Ile187Val)	HSCB (I187V +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2463510	NM_172002.5(HSCB):c.242G>A (p.Arg81His)	HSCB (R81H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2425696	NC_000022.10:g.(?_29130452)_(29160933_?)del	CHEK2, HSCB	Deletion	Familial cancer of breast	GPathogenic
Select item 2405283	NM_172002.5(HSCB):c.677A>G (p.Glu226Gly)	HSCB (E226G +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2301932	NM_172002.5(HSCB):c.188C>T (p.Ala63Val)	HSCB (A63V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249916	NM_172002.5(HSCB):c.68G>A (p.Arg23Lys)	HSCB (R23K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216970	NM_172002.5(HSCB):c.604G>A (p.Ala202Thr)	HSCB (A46T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1807757	GRCh37/hg19 22q12.1-12.2(chr22:26614429-29847680)x1	AP1B1, ASPHD2 +25 more	Copy number loss	not provided	GPathogenic
Select item 1526728	GRCh37/hg19 22q12.1(chr22:29115517-29146612)	CHEK2, HSCB	Copy number loss	not specified	GUncertain significance
Select item 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	KREMEN1, NEFH +71 more	Duplication	not provided	GUncertain significance
Select item 1272076	NM_007194.2(CHEK2):c.-200C>T	HSCB	Single nucleotide variant	Anemia, sideroblastic, 5	GPathogenic
Select item 1272075	NM_172002.5(HSCB):c.259dup (p.Thr87fs)	HSCB (T87fs)	Duplication (frameshift variant +2 more)	Anemia, sideroblastic, 5	GPathogenic
Select item 1076756	NC_000022.10:g.(?_29105984)_(30337586_?)del	AP1B1, ASCC2 +22 more	Deletion	Familial cancer of breast	GPathogenic
Select item 1076222	NC_000022.10:g.(?_29083885)_(30337586_?)del	CABP7, CCDC117 +22 more	Deletion	Neurofibromatosis, type 2	GPathogenic
Select item 1068607	NC_000022.10:g.(?_29082731)_(29138822_?)del	CHEK2, HSCB	Deletion	Familial cancer of breast	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 979602	GRCh37/hg19 22q12.1-12.2(chr22:28291202-30450920)x1	AP1B1, ASCC2 +24 more	Copy number loss	not provided	GPathogenic
Select item 832675	NC_000022.10:g.(?_29083875)_(30090801_?)del	GAS2L1, AP1B1 +17 more	Deletion	Familial cancer of breast	GPathogenic
Select item 832563	NC_000022.10:g.(?_29083885)_(29621477_?)del	HSCB, XBP1 +6 more	Deletion	Familial cancer of breast	GPathogenic
Select item 801427	NM_172002.5(HSCB):c.13A>G (p.Arg5Gly)	HSCB (R5G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 801426	NM_172002.5(HSCB):c.-37C>T	HSCB	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 442526	GRCh37/hg19 22q12.1(chr22:29115517-29152791)x1	CHEK2, HSCB	Copy number loss	See cases	GUncertain significance
Select item 442415	GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3	DEPDC5, DRG1 +70 more	Copy number gain	See cases	GLikely pathogenic
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	AP1B1, ASCC2 +260 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 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	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 146030	GRCh38/hg38 22q12.1(chr22:27972484-28760350)x1	LOC126863115, CHEK2 +13 more	Copy number loss	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 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	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 59072	GRCh38/hg38 22q12.1-12.2(chr22:26221273-29477543)x1	AP1B1, ASPHD2 +122 more	Copy number loss	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 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	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

ClinVar

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Links from Gene

Items: 57