3569[geneid] - ClinVar

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Items: 49

	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 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	LOC129997989, LOC129997990 +823 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 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	ABCB5, ACTB +1148 more	Copy number gain	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 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	LOC129997985, LOC129997986 +560 more	Copy number gain	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC123924901, LOC123924902 +331 more	Copy number loss	See cases	GPathogenic
Select item 148859	GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1	LOC129998080, LOC129998081 +248 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 144929	GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1	LOC111365192, LOC111413014 +281 more	Copy number loss	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 144726	GRCh38/hg38 7p15.3(chr7:22486980-23176403)x3	HYCC1, IL6 +23 more	Copy number gain	See cases	GUncertain significance
Select item 1050490	NC_000007.14:g.22725249C>A	IL6	Single nucleotide variant	not provided	GUncertain significance
Select item 14719	NR_131935.1(IL6-AS1):n.157T>C	IL6, IL6-AS1	Single nucleotide variant (non-coding transcript variant)	INTERLEUKIN 6 POLYMORPHISM	GBenign
Select item 14718	NC_000007.14:g.22727026C>G	IL6-AS1, LOC126859963 +1 more	Single nucleotide variant (genic upstream transcript variant)	Diabetes mellitus, type 1, susceptibility to +6 more	Gother; risk factor
Select item 709119	NM_000600.5(IL6):c.91C>A (p.Pro31Thr)	IL6, IL6-AS1 +1 more (P31T +1 more)	Single nucleotide variant (missense variant +1 more)	IL6-related condition +1 more	GBenign
Select item 768143	NM_000600.5(IL6):c.94C>T (p.Pro32Ser)	IL6, IL6-AS1 +1 more (P32S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2245276	NM_000600.5(IL6):c.119C>A (p.Ala40Asp)	IL6, IL6-AS1 +1 more (A17D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2495660	NM_000600.5(IL6):c.168A>C (p.Gln56His)	IL6, IL6-AS1 +1 more (Q33H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 717506	NM_000600.5(IL6):c.183C>T (p.Leu61=)	IL6, IL6-AS1 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 708101	NM_000600.5(IL6):c.195A>C (p.Ser65=)	IL6, IL6-AS1 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2406494	NM_000600.5(IL6):c.285G>C (p.Met95Ile)	IL6 (M19I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 777811	NM_000600.5(IL6):c.485A>T (p.Asp162Val)	IL6 (D162V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2534860	NM_000600.5(IL6):c.549C>A (p.Asn183Lys)	IL6 (N160K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056054	NM_000600.5(IL6):c.603C>T (p.Phe201=)	IL6	Single nucleotide variant (synonymous variant)	IL6-related condition	GBenign
Select item 2303034	NM_000600.5(IL6):c.620G>C (p.Arg207Thr)	IL6 (R184T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062983	GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	ABCB5, CBX3 +75 more	Copy number loss	not specified	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 2684485	GRCh37/hg19 7p15.3(chr7:22532986-22837871)x3	IL6, IL6-AS1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684484	GRCh37/hg19 7p15.3(chr7:22362299-23695195)x3	GPNMB, CCDC126 +12 more	Copy number gain	not provided	GUncertain significance
Select item 2424085	NC_000007.13:g.(?_20994491)_(23030730_?)del	CDCA7L, DNAH11 +7 more	Deletion	Hypomyelination and Congenital Cataract +1 more	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 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527341	GRCh37/hg19 7p15.3(chr7:22574536-23357770)	GPNMB, HYCC1 +8 more	Copy number loss	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 1410399	NC_000007.13:g.(?_20994491)_(23213917_?)dup	CDCA7L, DNAH11 +9 more	Duplication	Primary ciliary dyskinesia	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 563359	GRCh37/hg19 7p15.3(chr7:22721417-23193605)x3	KLHL7, FAM126A +4 more	Copy number gain	not provided	GUncertain significance
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 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	ABCA13, ABCB5 +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 253859	GRCh37/hg19 7p15.3(chr7:22766756-23053688)x1	IL6-AS1, FAM126A +2 more	Copy number loss	See cases	GUncertain significance
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 49