80832[geneid] - ClinVar

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Items: 31

	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 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 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 59058	GRCh38/hg38 22q12.3(chr22:35753347-36593973)x3	APOL1, APOL2 +43 more	Copy number gain	See cases	GUncertain significance
Select item 445778	NM_001386885.1(APOL4):c.323_324dup (p.Phe109fs)	APOL4 (F109fs +1 more)	Microsatellite (frameshift variant)	not provided	GLikely benign
Select item 2224418	NM_001386885.1(APOL4):c.230A>G (p.Tyr77Cys)	APOL4 (Y77C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334231	NM_001386885.1(APOL4):c.125A>T (p.Lys42Met)	APOL4 (K45M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348449	NM_001386885.1(APOL4):c.92G>A (p.Arg31His)	APOL4 (R31H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128037	NM_001386885.1(APOL4):c.81A>C (p.Gln27His)	APOL4 (K45T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2249516	NM_001386885.1(APOL4):c.71G>A (p.Gly24Glu)	APOL4 (G24E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595123	NM_001386885.1(APOL4):c.37G>A (p.Val13Met)	APOL4 (V16M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2605721	NM_145660.2(APOL4):c.41T>A (p.Ile14Asn)	APOL4 (I14N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2684937	GRCh37/hg19 22q12.3(chr22:36340692-36640557)x3	APOL2, APOL3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	APOL2, APOL3 +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1809309	GRCh37/hg19 22q12.3(chr22:36540261-36587511)x1	APOL3, APOL4	Copy number loss	not provided	GUncertain significance
Select item 1340532	GRCh37/hg19 22q12.3(chr22:36540261-36595778)x1	APOL3, APOL4	Copy number loss	not provided	GUncertain significance
Select item 1340247	GRCh37/hg19 22q12.3(chr22:36296883-36631953)x3	APOL2, APOL3 +2 more	Copy number gain	not provided	GUncertain significance
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 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
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 443342	GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3	ANKRD54, APOBEC3A +76 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 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 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 221996	GRCh37/hg19 22q12.3-13.1(chr22:35680095-38098981)x1	APOL1, APOL2 +41 more	Copy number loss	See cases	GPathogenic

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Items: 31