18036[HGNC] - ClinVar

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Items: 57

	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 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	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 59075	GRCh38/hg38 22q12.1-12.2(chr22:28856144-29506277)x1	AP1B1, C22orf31 +34 more	Copy number loss	See cases	GPathogenic
Select item 3088574	NM_133455.4(EMID1):c.10C>T (p.Pro4Ser)	EMID1, LOC130067174 (P4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088578	NM_133455.4(EMID1):c.19T>G (p.Trp7Gly)	EMID1, LOC130067174 (W7G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088586	NM_133455.4(EMID1):c.76G>C (p.Gly26Arg)	EMID1, LOC130067175 (G26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517959	NM_133455.4(EMID1):c.76G>A (p.Gly26Arg)	EMID1, LOC130067175 (G26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530048	NM_133455.4(EMID1):c.82G>A (p.Ala28Thr)	EMID1, LOC130067175 (A28T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088576	NM_133455.4(EMID1):c.127C>T (p.Arg43Cys)	EMID1 (R43C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494489	NM_133455.4(EMID1):c.149A>G (p.Gln50Arg)	EMID1 (Q50R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290858	NM_133455.4(EMID1):c.158C>A (p.Thr53Asn)	EMID1 (T53N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088577	NM_133455.4(EMID1):c.164T>G (p.Leu55Arg)	EMID1 (L55R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088579	NM_133455.4(EMID1):c.206C>T (p.Pro69Leu)	EMID1 (P69L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088580	NM_133455.4(EMID1):c.355T>C (p.Ser119Pro)	EMID1 (S117P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599741	NM_133455.4(EMID1):c.356C>T (p.Ser119Leu)	EMID1 (S119L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088581	NM_133455.4(EMID1):c.401C>T (p.Ser134Leu)	EMID1 (S132L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088582	NM_133455.4(EMID1):c.404G>A (p.Gly135Asp)	EMID1 (G133D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374686	NM_133455.4(EMID1):c.470C>G (p.Thr157Ser)	EMID1 (T155S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513037	NM_133455.4(EMID1):c.496G>A (p.Val166Ile)	EMID1 (V166I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088583	NM_133455.4(EMID1):c.548C>G (p.Pro183Arg)	EMID1 (P181R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780636	NM_133455.4(EMID1):c.587-5C>G	EMID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2522626	NM_133455.4(EMID1):c.595G>A (p.Gly199Ser)	EMID1 (G197S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088584	NM_133455.4(EMID1):c.613G>A (p.Gly205Arg)	EMID1 (G205R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088585	NM_133455.4(EMID1):c.647G>A (p.Arg216Gln)	EMID1 (R214Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2479912	NM_133455.4(EMID1):c.680C>T (p.Pro227Leu)	EMID1 (P225L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488631	NM_133455.4(EMID1):c.728C>G (p.Pro243Arg)	EMID1 (P243R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353749	NM_133455.4(EMID1):c.867C>G (p.His289Gln)	EMID1 (H289Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592380	NM_133455.4(EMID1):c.884C>T (p.Thr295Ile)	EMID1 (T293I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373141	NM_133455.4(EMID1):c.895G>A (p.Gly299Ser)	EMID1 (G297S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088575	NM_133455.4(EMID1):c.1193T>C (p.Ile398Thr)	EMID1 (I396T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286339	NM_133455.4(EMID1):c.1226C>T (p.Ala409Val)	EMID1 (A409V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601200	NM_133455.4(EMID1):c.1316G>A (p.Arg439Gln)	EMID1 (R439Q +2 more)	Single nucleotide variant (missense variant)	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 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	KREMEN1, NEFH +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	CABP7, CCDC117 +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	ZNRF3, CCDC117 +17 more	Deletion	Familial cancer of breast	GPathogenic
Select item 832563	NC_000022.10:g.(?_29083885)_(29621477_?)del	CCDC117, CHEK2 +6 more	Deletion	Familial cancer of breast	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 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

ClinVar

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Items: 57