23780[geneid] - ClinVar

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Items: 58

	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 153170	GRCh38/hg38 22q12.3(chr22:36218250-36311777)x3	APOL1, APOL2 +7 more	Copy number gain	See cases	GUncertain significance
Select item 3128026	NM_030882.4(APOL2):c.988A>C (p.Met330Leu)	APOL2 (M330L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569165	NM_030882.4(APOL2):c.842G>T (p.Gly281Val)	APOL2 (G281V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340768	NM_030882.4(APOL2):c.836C>T (p.Thr279Ile)	APOL2 (T279I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541664	NM_030882.4(APOL2):c.835A>C (p.Thr279Pro)	APOL2 (T279P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352508	NM_030882.4(APOL2):c.760G>A (p.Gly254Ser)	APOL2 (G254S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612690	NM_030882.4(APOL2):c.712G>A (p.Ala238Thr)	APOL2 (A238T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356198	NM_030882.4(APOL2):c.673C>T (p.Arg225Cys)	APOL2 (R225C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251111	NM_030882.4(APOL2):c.650C>T (p.Thr217Ile)	APOL2 (T217I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128024	NM_030882.4(APOL2):c.623C>T (p.Thr208Ile)	APOL2 (T208I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210447	NM_030882.4(APOL2):c.622A>C (p.Thr208Pro)	APOL2 (T208P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216017	NM_030882.4(APOL2):c.607A>T (p.Thr203Ser)	APOL2 (T203S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327663	NM_030882.4(APOL2):c.538C>G (p.Gln180Glu)	APOL2 (Q180E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2245990	NM_030882.4(APOL2):c.536C>T (p.Ala179Val)	APOL2 (A179V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535262	NM_030882.4(APOL2):c.517A>G (p.Asn173Asp)	APOL2 (N173D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523269	NM_030882.4(APOL2):c.490A>T (p.Ile164Phe)	APOL2 (I164F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128023	NM_030882.4(APOL2):c.467G>A (p.Gly156Glu)	APOL2 (G156E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128022	NM_030882.4(APOL2):c.455G>T (p.Gly152Val)	APOL2 (G152V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353576	NM_030882.4(APOL2):c.391A>T (p.Thr131Ser)	APOL2 (T131S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2373017	NM_030882.4(APOL2):c.341C>T (p.Thr114Ile)	APOL2 (T114I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600991	NM_030882.4(APOL2):c.298C>G (p.Arg100Gly)	APOL2 (R100G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467697	NM_030882.4(APOL2):c.298C>T (p.Arg100Cys)	APOL2 (R100C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460268	NM_030882.4(APOL2):c.281A>G (p.Asp94Gly)	APOL2 (D94G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455527	NM_030882.4(APOL2):c.269G>C (p.Arg90Thr)	APOL2 (R90T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345445	NM_030882.4(APOL2):c.259C>T (p.Arg87Trp)	APOL2 (R87W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603365	NM_030882.4(APOL2):c.256C>T (p.Pro86Ser)	APOL2 (P86S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781770	NM_030882.4(APOL2):c.233G>A (p.Arg78Lys)	APOL2 (R78K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3128021	NM_030882.4(APOL2):c.222C>G (p.Asp74Glu)	APOL2 (D74E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289894	NM_030882.4(APOL2):c.206A>T (p.Asn69Ile)	APOL2 (N69I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562093	NM_030882.4(APOL2):c.158G>A (p.Arg53His)	APOL2 (R53H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128020	NM_030882.4(APOL2):c.157C>T (p.Arg53Cys)	APOL2 (R53C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367470	NM_030882.4(APOL2):c.136A>G (p.Arg46Gly)	APOL2 (R46G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210917	NM_030882.4(APOL2):c.67G>A (p.Glu23Lys)	APOL2 (E23K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218760	NM_030882.4(APOL2):c.59T>G (p.Val20Gly)	APOL2 (V20G)	Single nucleotide variant (missense variant)	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 1526735	GRCh37/hg19 22q12.3(chr22:36614412-36716248)	APOL1, APOL2 +1 more	Copy number gain	not specified	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 564979	GRCh37/hg19 22q12.3(chr22:36614412-36716248)x3	APOL1, APOL2 +1 more	Copy number gain	not provided	GUncertain significance
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 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 393834	GRCh37/hg19 22q12.3(chr22:36623928-36677580)x3	APOL1, APOL2 +1 more	Copy number gain	See cases	GUncertain significance
Select item 253911	GRCh37/hg19 22q12.3(chr22:36623928-36677639)x3	APOL2, MYH9 +1 more	Copy number gain	See cases	GUncertain significance
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: 58