DGKB[gene] - ClinVar

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Items: 86

	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 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 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 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	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 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 58518	GRCh38/hg38 7p21.3-21.1(chr7:9975653-19356878)x1	AGMO, AGR2 +130 more	Copy number loss	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC129998072, LOC129998073 +331 more	Copy number loss	See cases	GPathogenic
Select item 154585	GRCh38/hg38 7p21.3-21.2(chr7:11122492-16479303)x1	AGMO, ARL4A +62 more	Copy number loss	See cases	GPathogenic
Select item 147493	GRCh38/hg38 7p21.3-21.2(chr7:13262814-15234164)x3	AGMO, DGKB +12 more	Copy number gain	See cases	GUncertain significance
Select item 147793	GRCh38/hg38 7p21.2-21.1(chr7:13966197-18321354)x1	AGMO, AGR2 +59 more	Copy number loss	See cases	GPathogenic
Select item 2381072	NM_001350709.2(DGKB):c.2335A>G (p.Met779Val)	DGKB (M768V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271704	NM_001350709.2(DGKB):c.2326C>A (p.Gln776Lys)	DGKB (Q758K +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234847	NM_001350709.2(DGKB):c.2249G>A (p.Ser750Asn)	DGKB (S701N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605792	NM_001350709.2(DGKB):c.2227T>G (p.Ser743Ala)	DGKB (S732A +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081876	NM_001350709.2(DGKB):c.2099A>G (p.Lys700Arg)	DGKB (K659R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 149349	GRCh38/hg38 7p21.2(chr7:14404259-14584643)x1	DGKB	Copy number loss	See cases	GLikely benign
Select item 3081874	NM_001350709.2(DGKB):c.1686G>T (p.Lys562Asn)	DGKB (K513N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081873	NM_001350709.2(DGKB):c.1650T>G (p.Ile550Met)	DGKB (I544M +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311098	NM_001350709.2(DGKB):c.1588A>G (p.Arg530Gly)	DGKB (R481G +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271708	NM_001350709.2(DGKB):c.1532T>C (p.Val511Ala)	DGKB (V504A +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271711	NM_001350709.2(DGKB):c.1437A>T (p.Leu479Phe)	DGKB (L468F +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307666	NM_001350709.2(DGKB):c.1381C>G (p.Leu461Val)	DGKB (L454V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271709	NM_001350709.2(DGKB):c.1269T>A (p.Asp423Glu)	DGKB (D405E +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081872	NM_001350709.2(DGKB):c.1249G>A (p.Ala417Thr)	DGKB (A410T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081871	NM_001350709.2(DGKB):c.1234A>G (p.Asn412Asp)	DGKB (N412D +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497744	NM_001350709.2(DGKB):c.947A>T (p.Asn316Ile)	DGKB (N267I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3271710	NM_001350709.2(DGKB):c.908G>A (p.Arg303Lys)	DGKB (R254K +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 151563	GRCh38/hg38 7p21.2(chr7:14691154-14721276)x3	DGKB, LOC129998003	Copy number gain	See cases	GLikely benign
Select item 3081880	NM_001350709.2(DGKB):c.672G>A (p.Met224Ile)	DGKB (M217I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081879	NM_001350709.2(DGKB):c.578C>G (p.Thr193Ser)	DGKB (T151S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363235	NM_001350709.2(DGKB):c.512G>A (p.Ser171Asn)	DGKB (S122N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081878	NM_001350709.2(DGKB):c.380C>T (p.Thr127Met)	DGKB (T78M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278829	NM_001350709.2(DGKB):c.362C>T (p.Thr121Ile)	DGKB (T72I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223917	NM_001350709.2(DGKB):c.359G>A (p.Arg120Gln)	DGKB (R120Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271707	NM_001350709.2(DGKB):c.343G>A (p.Ala115Thr)	DGKB (A108T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081877	NM_001350709.2(DGKB):c.329G>T (p.Arg110Ile)	DGKB (R61I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396950	NM_001350709.2(DGKB):c.310C>G (p.Leu104Val)	DGKB (L104V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212364	NM_001350709.2(DGKB):c.287C>A (p.Pro96Gln)	DGKB (P47Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481983	NM_001350709.2(DGKB):c.246C>G (p.His82Gln)	DGKB (H40Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357846	NM_001350709.2(DGKB):c.233A>G (p.Asp78Gly)	DGKB (D78G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081875	NM_001350709.2(DGKB):c.176A>G (p.Asp59Gly)	DGKB (D10G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360330	NM_001350709.2(DGKB):c.103G>C (p.Glu35Gln)	DGKB (K4N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155461	GRCh38/hg38 7p21.2(chr7:14844332-15574557)x3	AGMO, DGKB +1 more	Copy number gain	See cases	GUncertain significance
Select item 144255	GRCh38/hg38 7p21.2-21.1(chr7:14904894-16925094)x1	AGMO, AGR2 +23 more	Copy number loss	See cases	GPathogenic
Select item 3062961	GRCh37/hg19 7p21.3-15.2(chr7:13107394-27514163)x1	ABCB5, AGMO +71 more	Copy number loss	not specified	GPathogenic
Select item 2684482	GRCh37/hg19 7p21.3-21.2(chr7:12462428-14693884)x3	DGKB, ETV1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2579040	GRCh37/hg19 7p21.3-21.2(chr7:10973263-14669896)x3	ARL4A, DGKB +7 more	Copy number gain	not provided	GUncertain significance
Select item 1808193	GRCh37/hg19 7p21.2(chr7:13892190-14764908)x3	DGKB, ETV1	Copy number gain	not provided	GUncertain significance
Select item 1807755	GRCh37/hg19 7p21.2(chr7:14441284-14664158)x1	DGKB	Copy number loss	not provided	GUncertain significance
Select item 1807681	GRCh37/hg19 7p21.2(chr7:13852084-15598523)x1	AGMO, DGKB +1 more	Copy number loss	not provided	GUncertain significance
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 1527339	GRCh37/hg19 7p21.2(chr7:14574208-15833180)	AGMO, DGKB +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527335	GRCh37/hg19 7p21.3-15.3(chr7:9358316-20982082)	ABCB5, AGMO +29 more	Copy number loss	not specified	GPathogenic
Select item 1341242	GRCh37/hg19 7p21.2(chr7:14772940-15458630)x3	AGMO, DGKB	Copy number gain	not provided	GUncertain significance
Select item 1341133	GRCh37/hg19 7p21.3-21.1(chr7:7909867-17213072)x1	AGMO, AGR2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 1172572	GRCh37/hg19 7p21.2(chr7:13998001-15227144)x3	DGKB, ETV1	Copy number gain	See cases	GUncertain significance
Select item 981203	GRCh37/hg19 7p21.2-21.1(chr7:14470668-20385165)x1	AGMO, AGR2 +19 more	Copy number loss	Saethre-Chotzen syndrome	GPathogenic
Select item 980243	GRCh37/hg19 7p21.2(chr7:14300277-14397548)x1	DGKB	Copy number loss	not provided	GLikely benign
Select item 814937	GRCh37/hg19 7p21.2(chr7:14661752-14736539)x1	DGKB	Copy number loss	not provided	GUncertain significance
Select item 814936	GRCh37/hg19 7p21.2(chr7:14045578-14259983)x3	DGKB	Copy number gain	not provided	GLikely benign
Select item 814934	GRCh37/hg19 7p21.2-21.1(chr7:13886653-20267202)x1	MEOX2, PRPS1L1 +19 more	Copy number loss	not provided	GPathogenic
Select item 688517	GRCh37/hg19 7p21.2(chr7:14618816-15070803)x3	DGKB	Copy number gain	not provided	GUncertain significance
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 685545	GRCh37/hg19 7p21.2(chr7:14350338-15586378)x3	AGMO, DGKB	Copy number gain	not provided	GUncertain significance
Select item 563419	GRCh37/hg19 7p21.2-15.3(chr7:14544155-21719929)x3	AGR3, TSPAN13 +23 more	Copy number gain	not provided	GPathogenic
Select item 563401	GRCh37/hg19 7p21.2(chr7:14584596-16342834)x3	AGMO, CRPPA +2 more	Copy number gain	not provided	GUncertain significance
Select item 563389	GRCh37/hg19 7p21.2(chr7:14477106-15458630)x3	DGKB, AGMO	Copy number gain	not provided	GLikely benign
Select item 443707	GRCh37/hg19 7p21.2-21.1(chr7:14675063-18907030)x1	AGMO, AGR2 +13 more	Copy number loss	See cases	GLikely pathogenic
Select item 442857	GRCh37/hg19 7p21.3-21.1(chr7:7660104-18400293)x3	AGMO, AGR2 +25 more	Copy number gain	See cases	GUncertain significance
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 442159	GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3	ACTB, ADAP1 +82 more	Copy number gain	See cases	GPathogenic
Select item 441717	GRCh37/hg19 7p21.2(chr7:14834976-15051923)x1	DGKB	Copy number loss	See cases	GUncertain significance
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395204	GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	ABCB5, ADCYAP1R1 +119 more	Copy number gain	See cases	GPathogenic
Select item 393872	GRCh37/hg19 7p21.2(chr7:14326482-14443860)x1	DGKB	Copy number loss	See cases	GLikely benign

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Items: 86