28969[Gene ID] - ClinVar

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Items: 62

	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 147793	GRCh38/hg38 7p21.2-21.1(chr7:13966197-18321354)x1	AGMO, AGR2 +59 more	Copy number loss	See cases	GPathogenic
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 58520	GRCh38/hg38 7p21.2-21.1(chr7:15133711-19642829)x1	AGMO, AGR2 +67 more	Copy number loss	See cases	GPathogenic
Select item 148859	GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1	ABCB5, AGMO +248 more	Copy number loss	See cases	GPathogenic
Select item 148160	GRCh38/hg38 7p21.2-21.1(chr7:16121516-20607899)x1	AGR2, AGR3 +84 more	Copy number loss	See cases	GPathogenic
Select item 59679	GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3	ABCB5, AGR2 +287 more	Copy number gain	See cases	GPathogenic
Select item 583954	NC_000007.14:g.(?_16308523)_(16689906_?)del	LRRC72, LOC129998006 +6 more	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GPathogenic
Select item 2214910	NM_014038.3(BZW2):c.38G>A (p.Arg13Gln)	BZW2 (R13Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 932628	NM_014038.3(BZW2):c.204C>T (p.Leu68=)	BZW2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2615084	NM_014038.3(BZW2):c.284A>G (p.Asn95Ser)	BZW2 (N95S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281448	NM_014038.3(BZW2):c.311A>G (p.Asp104Gly)	BZW2 (D104G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135648	NM_014038.3(BZW2):c.380A>G (p.Lys127Arg)	BZW2 (K127R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619431	NM_014038.3(BZW2):c.410T>C (p.Leu137Pro)	BZW2 (L137P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135649	NM_014038.3(BZW2):c.435A>C (p.Glu145Asp)	BZW2 (E145D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262358	NM_014038.3(BZW2):c.488C>T (p.Thr163Ile)	BZW2 (T163I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488253	NM_014038.3(BZW2):c.496G>A (p.Ala166Thr)	BZW2 (A166T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135650	NM_014038.3(BZW2):c.664G>A (p.Val222Ile)	BZW2 (V222I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276962	NM_014038.3(BZW2):c.668A>T (p.Asn223Ile)	BZW2 (N223I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262359	NM_014038.3(BZW2):c.748C>A (p.Gln250Lys)	BZW2 (Q250K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135651	NM_014038.3(BZW2):c.789G>T (p.Gln263His)	BZW2 (Q69H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135653	NM_014038.3(BZW2):c.803A>G (p.Gln268Arg)	BZW2 (Q74R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135654	NM_014038.3(BZW2):c.860A>T (p.Asp287Val)	BZW2 (D287V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607748	NM_014038.3(BZW2):c.905T>C (p.Met302Thr)	BZW2 (M302T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2424210	NC_000007.13:g.(?_16131320)_(17382688_?)del	AGR2, AGR3 +7 more	Deletion	not provided	GUncertain significance
Select item 1808089	GRCh37/hg19 7p21.2-21.1(chr7:15639869-16963424)x3	AGR2, AGR3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1807950	GRCh37/hg19 7p21.1(chr7:16669990-16784421)x1	ANKMY2, BZW2	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 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 1341133	GRCh37/hg19 7p21.3-21.1(chr7:7909867-17213072)x1	AGMO, AGR2 +20 more	Copy number loss	not provided	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 980247	GRCh37/hg19 7p21.2-21.1(chr7:16279316-18429845)x1	SOSTDC1, AGR2 +10 more	Copy number loss	not provided	GUncertain significance
Select item 814942	GRCh37/hg19 7p21.2-21.1(chr7:16027951-17081157)x3	AGR2, LRRC72 +6 more	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 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 685465	GRCh37/hg19 7p21.1(chr7:16534711-17205201)x3	AGR2, AGR3 +4 more	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 563387	GRCh37/hg19 7p21.1(chr7:16515348-17451988)x3	BZW2, ANKMY2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 563304	GRCh37/hg19 7p21.1(chr7:16717618-16847653)x1	BZW2, TSPAN13 +1 more	Copy number loss	not provided	GUncertain significance
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 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

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Items: 62