ClinVar for Gene (Select 25807) - ClinVar

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Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314168	NM_012265.3(RHBDD3):c.698C>T (p.Pro233Leu)	RHBDD3 (P233L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314167	NM_012265.3(RHBDD3):c.773C>T (p.Pro258Leu)	RHBDD3 (P258L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314166	NM_012265.3(RHBDD3):c.122C>T (p.Pro41Leu)	RHBDD3 (P41L)	Single nucleotide variant (missense variant +1 more)	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 3153970	NM_012265.3(RHBDD3):c.766C>G (p.Pro256Ala)	RHBDD3 (P256A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153969	NM_012265.3(RHBDD3):c.757T>C (p.Ser253Pro)	RHBDD3 (S253P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153968	NM_012265.3(RHBDD3):c.568G>C (p.Glu190Gln)	RHBDD3 (E190Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153967	NM_012265.3(RHBDD3):c.541G>C (p.Gly181Arg)	RHBDD3 (G181R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153966	NM_012265.3(RHBDD3):c.1025C>T (p.Ala342Val)	RHBDD3 (A342V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2681514	NM_012265.3(RHBDD3):c.424G>A (p.Ala142Thr)	RHBDD3 (A142T)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2622776	NM_012265.3(RHBDD3):c.598G>A (p.Val200Ile)	RHBDD3 (V200I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2550139	NM_012265.3(RHBDD3):c.832G>A (p.Ala278Thr)	RHBDD3 (A278T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549724	NM_012265.3(RHBDD3):c.446C>T (p.Pro149Leu)	RHBDD3 (P149L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533167	NM_012265.3(RHBDD3):c.343G>A (p.Ala115Thr)	RHBDD3 (A115T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526934	NM_012265.3(RHBDD3):c.1150G>A (p.Gly384Arg)	RHBDD3 (G384R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522535	NM_012265.3(RHBDD3):c.400C>T (p.His134Tyr)	RHBDD3 (H134Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2518398	NM_012265.3(RHBDD3):c.1112C>A (p.Thr371Asn)	RHBDD3 (T371N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508555	NM_012265.3(RHBDD3):c.551G>A (p.Arg184Gln)	RHBDD3 (R184Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2485352	NM_012265.3(RHBDD3):c.1052G>A (p.Arg351His)	RHBDD3 (R351H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476291	NM_012265.3(RHBDD3):c.1024G>A (p.Ala342Thr)	RHBDD3 (A342T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406765	NM_012265.3(RHBDD3):c.458T>C (p.Leu153Pro)	RHBDD3 (L153P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395473	NM_012265.3(RHBDD3):c.719A>T (p.Tyr240Phe)	RHBDD3 (Y240F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385692	NM_012265.3(RHBDD3):c.992A>C (p.Gln331Pro)	RHBDD3 (Q331P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358995	NM_012265.3(RHBDD3):c.713C>T (p.Pro238Leu)	RHBDD3 (P238L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333282	NM_012265.3(RHBDD3):c.5A>G (p.His2Arg)	RHBDD3 (H2R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318354	NM_012265.3(RHBDD3):c.144G>C (p.Trp48Cys)	RHBDD3 (W48C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303903	NM_012265.3(RHBDD3):c.550C>T (p.Arg184Trp)	RHBDD3 (R184W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296539	NM_012265.3(RHBDD3):c.112G>T (p.Val38Phe)	RHBDD3 (V38F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286452	NM_012265.3(RHBDD3):c.943A>G (p.Ser315Gly)	RHBDD3 (S315G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259306	NM_012265.3(RHBDD3):c.214C>G (p.Leu72Val)	RHBDD3 (L72V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248779	NM_012265.3(RHBDD3):c.602T>C (p.Leu201Ser)	RHBDD3 (L201S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248085	NM_012265.3(RHBDD3):c.520G>C (p.Ala174Pro)	RHBDD3 (A174P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237315	NM_012265.3(RHBDD3):c.167A>G (p.His56Arg)	RHBDD3 (H56R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219573	NM_012265.3(RHBDD3):c.617C>T (p.Ala206Val)	RHBDD3 (A206V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215351	NM_012265.3(RHBDD3):c.650C>T (p.Pro217Leu)	RHBDD3 (P217L)	Single nucleotide variant (missense variant +1 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 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	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	AP1B1, C22orf31 +17 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 522731	NM_012265.3(RHBDD3):c.238C>T (p.Gln80Ter)	RHBDD3 (Q80*)	Single nucleotide variant (nonsense)	not provided	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 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 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 59075	GRCh38/hg38 22q12.1-12.2(chr22:28856144-29506277)x1	AP1B1, C22orf31 +34 more	Copy number loss	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 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: 64