16486[HGNC] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 155274	GRCh38/hg38 7p22.3(chr7:45130-1298050)x1	ADAP1, C7orf50 +102 more	Copy number loss	See cases	GUncertain significance
Select item 155108	GRCh38/hg38 7p22.3-22.2(chr7:45130-3406236)x3	ADAP1, AMZ1 +246 more	Copy number gain	See cases	GUncertain significance
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +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	LOC126859917, LOC126859918 +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	LOC129997768, LOC132089513 +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	ACTB, ADAP1 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 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	LOC129998210, LOC129998211 +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	ABCB5, ACTB +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)	not specified	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)	not specified	GUncertain significance
Select item 2301015	NM_006869.4(ADAP1):c.727G>A (p.Ala243Thr)	ADAP1 (A148T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268679	NM_006869.4(ADAP1):c.637G>C (p.Glu213Gln)	ADAP1 (E213Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347069	NM_006869.4(ADAP1):c.568G>A (p.Gly190Ser)	ADAP1 (G190S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491404	NM_006869.4(ADAP1):c.523A>G (p.Met175Val)	ADAP1 (M103V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289970	NM_006869.4(ADAP1):c.491A>G (p.Asn164Ser)	ADAP1 (N69S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593488	NM_006869.4(ADAP1):c.446G>A (p.Arg149Gln)	ADAP1 (R149Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268669	NM_006869.4(ADAP1):c.415C>G (p.Arg139Gly)	ADAP1 (R67G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335137	NM_006869.4(ADAP1):c.415C>T (p.Arg139Cys)	ADAP1 (R67C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554653	NM_006869.4(ADAP1):c.394C>T (p.Arg132Cys)	ADAP1 (R132C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774872	NM_006869.4(ADAP1):c.389-8C>G	ADAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3079988	NM_006869.4(ADAP1):c.380A>C (p.Tyr127Ser)	ADAP1 (Y32S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487385	NM_006869.4(ADAP1):c.377C>T (p.Pro126Leu)	ADAP1 (P126L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553006	NM_006869.4(ADAP1):c.306G>C (p.Gln102His)	ADAP1 (Q113H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079980	NM_006869.4(ADAP1):c.284G>A (p.Arg95Gln)	ADAP1 (R23Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353060	NM_006869.4(ADAP1):c.242C>T (p.Ala81Val)	ADAP1 (A81V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079972	NM_006869.4(ADAP1):c.235G>A (p.Asp79Asn)	ADAP1 (D79N +2 more)	Single nucleotide variant (missense variant)	not specified	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 3079969	NM_006869.4(ADAP1):c.208G>A (p.Val70Met)	ADAP1 (V70M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079964	NM_006869.4(ADAP1):c.112G>A (p.Val38Ile)	ADAP1 (V38I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512224	NM_006869.4(ADAP1):c.77C>T (p.Ala26Val)	ADAP1, LOC129997752 (A26V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268658	NM_006869.4(ADAP1):c.38T>A (p.Leu13Gln)	ADAP1, LOC129997752 (L13Q)	Single nucleotide variant (missense variant +1 more)	not specified	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	FAM20C, GET4 +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	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +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	DAGLB, DNAAF5 +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	TNRC18, TTYH3 +80 more	Copy number gain	See cases	GPathogenic

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Items: 82