7827[HGNC] - ClinVar

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Items: 38

	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 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 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
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 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	AP1B1, ASCC2 +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 59074	GRCh38/hg38 22q12.1-12.2(chr22:28441035-30276511)x1	AP1B1, ASCC2 +89 more	Copy number loss	See cases	GPathogenic
Select item 57489	GRCh38/hg38 22q12.2(chr22:29281920-29878399)x3	AP1B1, ASCC2 +28 more	Copy number gain	See cases	GUncertain significance
Select item 3200183	NM_003634.4(NIPSNAP1):c.709T>C (p.Tyr237His)	NIPSNAP1 (Y217H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276441	NM_003634.4(NIPSNAP1):c.626A>G (p.Lys209Arg)	NIPSNAP1 (K189R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543845	NM_003634.4(NIPSNAP1):c.622A>G (p.Ile208Val)	NIPSNAP1 (I188V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324545	NM_003634.4(NIPSNAP1):c.554A>G (p.Tyr185Cys)	NIPSNAP1 (Y165C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299812	NM_003634.4(NIPSNAP1):c.311A>G (p.Tyr104Cys)	NIPSNAP1, LOC112695077 (Y84C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299811	NM_003634.4(NIPSNAP1):c.102C>A (p.Phe34Leu)	NIPSNAP1 (F34L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524736	NM_003634.4(NIPSNAP1):c.47T>G (p.Leu16Arg)	NIPSNAP1 (L16R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476627	NM_003634.4(NIPSNAP1):c.22A>G (p.Ile8Val)	NIPSNAP1 (I8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456102	NM_003634.4(NIPSNAP1):c.19A>G (p.Ser7Gly)	NIPSNAP1 (S7G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247149	NC_000022.10:g.(?_29621477)_(30035211_?)del	AP1B1, EMID1 +10 more	Deletion	Neurofibromatosis, type 2	GPathogenic
Select item 3247093	NC_000022.10:g.(?_29083885)_(30090791_?)del	AP1B1, C22orf31 +17 more	Deletion	Neurofibromatosis, type 2	GPathogenic
Select item 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	AP1B1, ASCC2 +71 more	Duplication	not provided	GUncertain significance
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	AP1B1, ASCC2 +22 more	Deletion	Neurofibromatosis, type 2	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	AP1B1, C22orf31 +17 more	Deletion	Familial cancer of breast	GPathogenic
Select item 685732	GRCh37/hg19 22q12.2(chr22:29865041-29959633)x3	NEFH, NIPSNAP1 +1 more	Copy number gain	not provided	GUncertain significance
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 634999	inv(22)(q12.2q12.2)	NEFH, PIK3IP1 +42 more	Inversion	Anaplastic ependymoma	GLikely pathogenic
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 565022	GRCh37/hg19 22q12.2(chr22:29644625-31051719)x1	AP1B1, ASCC2 +32 more	Copy number loss	not provided	GPathogenic
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

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Items: 38