28073[HGNC] - ClinVar

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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	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 148752	GRCh38/hg38 7p22.3(chr7:1085248-2530644)x4	C7orf50, CHST12 +116 more	Copy number gain	See cases	GUncertain significance
Select item 3334303	NM_182491.4(ZFAND2A):c.433G>C (p.Gly145Arg)	ZFAND2A (G114R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192846	NM_182491.4(ZFAND2A):c.433G>T (p.Gly145Trp)	ZFAND2A (G114W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326443	NM_182491.4(ZFAND2A):c.431C>G (p.Ala144Gly)	ZFAND2A (A113G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334302	NM_182491.4(ZFAND2A):c.409G>A (p.Gly137Arg)	ZFAND2A (G106R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324866	NM_182491.4(ZFAND2A):c.358G>A (p.Gly120Ser)	ZFAND2A (G120S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2461445	NM_182491.4(ZFAND2A):c.296G>A (p.Arg99His)	ZFAND2A (R99H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2285138	NM_182491.4(ZFAND2A):c.266G>C (p.Gly89Ala)	ZFAND2A (G89A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334301	NM_182491.4(ZFAND2A):c.235C>A (p.His79Asn)	ZFAND2A (H79N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592386	NM_182491.4(ZFAND2A):c.230G>C (p.Gly77Ala)	ZFAND2A (G77A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192845	NM_182491.4(ZFAND2A):c.204G>C (p.Lys68Asn)	ZFAND2A (K68N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302687	NM_182491.4(ZFAND2A):c.149A>G (p.Lys50Arg)	ZFAND2A (K50R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334306	NM_182491.4(ZFAND2A):c.140C>T (p.Ala47Val)	ZFAND2A (A47V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410933	NM_182491.4(ZFAND2A):c.134C>T (p.Pro45Leu)	ZFAND2A (P45L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192844	NM_182491.4(ZFAND2A):c.118G>A (p.Ala40Thr)	ZFAND2A (A40T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334304	NM_182491.4(ZFAND2A):c.107A>G (p.His36Arg)	ZFAND2A (H36R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543069	NM_182491.4(ZFAND2A):c.97T>G (p.Cys33Gly)	ZFAND2A (C33G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217423	NM_182491.4(ZFAND2A):c.85A>G (p.Lys29Glu)	ZFAND2A (K29E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205900	NM_182491.4(ZFAND2A):c.80C>T (p.Ala27Val)	ZFAND2A (A27V)	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 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 1808147	GRCh37/hg19 7p22.3(chr7:1142498-1376883)x3	C7orf50, UNCX +1 more	Copy number gain	not provided	GUncertain significance
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 980819	GRCh37/hg19 7p22.3(chr7:1063598-1614261)x3	C7orf50, GPER1 +8 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 814913	GRCh37/hg19 7p22.3(chr7:1108122-1812800)x3	ZFAND2A, C7orf50 +8 more	Copy number gain	not provided	GUncertain significance
Select item 814912	GRCh37/hg19 7p22.3(chr7:1065860-1812800)x3	GPR146, PSMG3 +9 more	Copy number gain	not provided	GUncertain significance
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 394340	GRCh37/hg19 7p22.3(chr7:1126463-1194990)x1	C7orf50, GPER1 +1 more	Copy number loss	See cases	GLikely benign
Select item 393941	GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3	TNRC18, TTYH3 +80 more	Copy number gain	See cases	GPathogenic
Select item 253802	GRCh37/hg19 7p22.3-22.2(chr7:1004794-4063934)x4	CYP2W1, PSMG3 +25 more	Copy number gain	See cases	GUncertain significance

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Items: 74