ADAP1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	PSMG3, PSMG3-AS1 +904 more	Copy number gain	See cases	GPathogenic
Select item 155274	GRCh38/hg38 7p22.3(chr7:45130-1298050)x1	LOC129997762, LOC129997763 +102 more	Copy number loss	See cases	GUncertain significance
Select item 155108	GRCh38/hg38 7p22.3-22.2(chr7:45130-3406236)x3	AMZ1, ADAP1 +246 more	Copy number gain	See cases	GUncertain significance
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	LOC129997989, LOC129997990 +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 154928	GRCh38/hg38 7p22.3-22.2(chr7:54165-3258775)x1	LOC129997784, LOC129997785 +245 more	Copy number loss	See cases	GPathogenic
Select item 160967	GRCh38/hg38 7p22.3(chr7:54185-1843584)x1	ADAP1, C7orf50 +140 more	Copy number loss	See cases	GPathogenic
Select item 148079	GRCh38/hg38 7p22.3(chr7:54185-1331046)x1	ADAP1, C7orf50 +102 more	Copy number loss	See cases	GUncertain significance
Select item 147625	GRCh38/hg38 7p22.3-22.2(chr7:54185-3324143)x1	ADAP1, AMZ1 +246 more	Copy number loss	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	LOC123924897, LOC123924898 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	LOC110120728, LOC110120749 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 144710	GRCh38/hg38 7p22.3(chr7:54185-1206119)x3	ADAP1, C7orf50 +97 more	Copy number gain	See cases	GUncertain significance
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	ABCB5, ACTB +1148 more	Copy number gain	See cases	GPathogenic
Select item 58496	GRCh38/hg38 7p22.3(chr7:54185-1441125)x1	ADAP1, C7orf50 +108 more	Copy number loss	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC126860013, LOC126860014 +1298 more	Copy number gain	See cases	GPathogenic
Select item 32434	GRCh38/hg38 7p22.3(chr7:54185-1843584)x1	ADAP1, C7orf50 +140 more	Copy number loss	See cases	GPathogenic
Select item 149269	GRCh38/hg38 7p22.3(chr7:689554-2031521)x3	ADAP1, C7orf50 +117 more	Copy number gain	See cases	GUncertain significance
Select item 147514	GRCh38/hg38 7p22.3(chr7:791215-1993065)x3	ADAP1, C7orf50 +105 more	Copy number gain	See cases	GUncertain significance
Select item 152395	GRCh38/hg38 7p22.3(chr7:866937-948487)x3	ADAP1, GET4 +16 more	Copy number gain	See cases	GBenign
Select item 152401	GRCh38/hg38 7p22.3(chr7:890905-948487)x3	ADAP1, GET4 +10 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 151574	GRCh38/hg38 7p22.3(chr7:890905-990730)x3	ADAP1, C7orf50 +18 more	Copy number gain	See cases	GBenign
Select item 151557	GRCh38/hg38 7p22.3(chr7:890905-945447)x3	ADAP1, GET4 +10 more	Copy number gain	See cases	GBenign
Select item 152399	GRCh38/hg38 7p22.3(chr7:896276-1022380)x3	ADAP1, C7orf50 +20 more	Copy number gain	See cases	GBenign
Select item 151556	GRCh38/hg38 7p22.3(chr7:896276-940377)x3	ADAP1, GET4 +9 more	Copy number gain	See cases	GBenign
Select item 2294544	NM_006869.4(ADAP1):c.991G>A (p.Asp331Asn)	ADAP1 (D236N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 776189	NM_006869.4(ADAP1):c.921G>A (p.Thr307=)	ADAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2541718	NM_006869.4(ADAP1):c.896T>C (p.Ile299Thr)	ADAP1 (I299T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301015	NM_006869.4(ADAP1):c.727G>A (p.Ala243Thr)	ADAP1 (A148T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347069	NM_006869.4(ADAP1):c.568G>A (p.Gly190Ser)	ADAP1 (G190S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491404	NM_006869.4(ADAP1):c.523A>G (p.Met175Val)	ADAP1 (M103V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289970	NM_006869.4(ADAP1):c.491A>G (p.Asn164Ser)	ADAP1 (N69S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593488	NM_006869.4(ADAP1):c.446G>A (p.Arg149Gln)	ADAP1 (R149Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335137	NM_006869.4(ADAP1):c.415C>T (p.Arg139Cys)	ADAP1 (R67C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554653	NM_006869.4(ADAP1):c.394C>T (p.Arg132Cys)	ADAP1 (R132C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 774872	NM_006869.4(ADAP1):c.389-8C>G	ADAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2487385	NM_006869.4(ADAP1):c.377C>T (p.Pro126Leu)	ADAP1 (P126L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553006	NM_006869.4(ADAP1):c.306G>C (p.Gln102His)	ADAP1 (Q113H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353060	NM_006869.4(ADAP1):c.242C>T (p.Ala81Val)	ADAP1 (A81V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2657173	NM_006869.4(ADAP1):c.234C>T (p.Asn78=)	ADAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2512224	NM_006869.4(ADAP1):c.77C>T (p.Ala26Val)	ADAP1, LOC129997752 (A26V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062959	GRCh37/hg19 7p22.3(chr7:43360-2020306)x1	ADAP1, C7orf50 +19 more	Copy number loss	not specified	GPathogenic
Select item 2685227	GRCh37/hg19 7p22.3(chr7:967186-1152455)x1	ADAP1, C7orf50 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2684472	GRCh37/hg19 7p22.3(chr7:704573-941737)x3	PRKAR1B, SUN1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684470	GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3	RNF216, SDK1 +48 more	Copy number gain	not provided	GPathogenic
Select item 2684469	GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3	PSMG3, RAC1 +73 more	Copy number gain	not provided	GPathogenic
Select item 2426527	NC_000007.13:g.(?_193200)_(1498962_?)del	ADAP1, C7orf50 +13 more	Deletion	not provided	GPathogenic
Select item 1711132	GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3	MAD1L1, MAFK +73 more	Copy number gain	See cases	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	ACTB, ADAP1 +98 more	Copy number gain	See cases	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1340418	GRCh37/hg19 7p22.3(chr7:989697-2138529)x3	ADAP1, C7orf50 +13 more	Copy number gain	not provided	GUncertain significance
Select item 980820	GRCh37/hg19 7p22.3(chr7:967185-1781553)x3	ADAP1, C7orf50 +12 more	Copy number gain	not provided	GUncertain significance
Select item 816483	GRCh37/hg19 7p22.3(chr7:44935-1750797)x1	TMEM184A, GET4 +18 more	Copy number loss	See cases	GPathogenic
Select item 814911	GRCh37/hg19 7p22.3(chr7:43360-1648288)x1	INTS1, ZFAND2A +17 more	Copy number loss	not provided	GPathogenic
Select item 688582	GRCh37/hg19 7p22.3-22.2(chr7:36616-4298168)x1	ADAP1, AMZ1 +32 more	Copy number loss	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687401	GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3	ACTB, ADAP1 +98 more	Copy number gain	not provided	GPathogenic
Select item 638135	GRCh37/hg19 7p22.3(chr7:869147-1438686)x1	ADAP1, C7orf50 +8 more	Copy number loss	See cases	GUncertain significance
Select item 563365	GRCh37/hg19 7p22.3(chr7:989696-1540461)x3	GPER1, ADAP1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 563328	GRCh37/hg19 7p22.3(chr7:967185-1261141)x3	COX19, ZFAND2A +5 more	Copy number gain	not provided	GLikely benign
Select item 443916	GRCh37/hg19 7p22.3-22.2(chr7:43360-3642604)x1	ADAP1, AMZ1 +32 more	Copy number loss	See cases	GPathogenic
Select item 443817	GRCh37/hg19 7p22.3(chr7:43360-2057743)x1	ADAP1, C7orf50 +19 more	Copy number loss	See cases	GLikely pathogenic
Select item 443071	GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3	ACTB, ADAP1 +76 more	Copy number gain	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 442624	GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	ABCB5, ACTB +121 more	Copy number gain	See cases	GPathogenic
Select item 442503	GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3	ACTB, ADAP1 +76 more	Copy number gain	See cases	GPathogenic
Select item 442159	GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3	ACTB, ADAP1 +82 more	Copy number gain	See cases	GPathogenic
Select item 394454	GRCh37/hg19 7p22.3(chr7:960405-1025934)x3	ADAP1, COX19 +1 more	Copy number gain	See cases	GUncertain significance
Select item 393941	GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3	ACTB, ADAP1 +80 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 74