UBL7[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	LOC121530589, LOC121530590 +487 more	Copy number loss	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 58078	GRCh38/hg38 15q24.1-24.2(chr15:72629028-75242989)x3	ADPGK, ADPGK-AS1 +204 more	Copy number gain	See cases	GPathogenic
Select item 545182	Single allele	LOC130057525, LOC130057526 +205 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 154681	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)x1	LOC110467517, LOC112272614 +202 more	Copy number loss	See cases	GPathogenic
Select item 148272	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1	NPTN-IT1, PML +195 more	Copy number loss	See cases	GLikely pathogenic
Select item 57428	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1	LOC130057507, LOC130057508 +236 more	Copy number loss	See cases	GPathogenic
Select item 153074	GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1	ADPGK, ADPGK-AS1 +243 more	Copy number loss	See cases	GPathogenic
Select item 545183	Single allele	MIR6882, MPI +258 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 2299200	NM_032907.5(UBL7):c.1132G>A (p.Gly378Arg)	UBL7 (G378R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300935	NM_032907.5(UBL7):c.866C>T (p.Pro289Leu)	UBL7 (P329L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244942	NM_032907.5(UBL7):c.731C>T (p.Pro244Leu)	UBL7 (P284L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185669	NM_032907.5(UBL7):c.652C>T (p.Arg218Trp)	UBL7 (R218W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712170	NM_032907.5(UBL7):c.609T>C (p.Pro203=)	UBL7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2348696	NM_032907.5(UBL7):c.598G>A (p.Ala200Thr)	UBL7 (A240T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2329139	NM_032907.5(UBL7):c.580C>T (p.His194Tyr)	UBL7 (H234Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185668	NM_032907.5(UBL7):c.463A>G (p.Ile155Val)	UBL7 (I195V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493797	NM_032907.5(UBL7):c.355G>A (p.Ala119Thr)	UBL7 (A119T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539302	NM_032907.5(UBL7):c.248C>T (p.Pro83Leu)	UBL7 (P123L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319282	NM_032907.5(UBL7):c.231C>G (p.Asp77Glu)	UBL7 (D117E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479508	NM_032907.5(UBL7):c.229G>C (p.Asp77His)	UBL7 (D117H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185670	NM_032907.5(UBL7):c.71G>C (p.Arg24Pro)	UBL7 (R24P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709280	NM_032907.5(UBL7):c.70C>G (p.Arg24Gly)	UBL7 (R24G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2310708	NM_032907.5(UBL7):c.64A>G (p.Ile22Val)	UBL7 (I62V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295873	NM_032907.5(UBL7):c.10T>C (p.Ser4Pro)	UBL7 (S4P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574692	GRCh37/hg19 15q24.1-24.2(chr15:72943184-76085232)	ADPGK, ARID3B +48 more	Copy number loss	Chromosome 15q24 deletion syndrome	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	ISLR2, MESD +209 more	Copy number gain	not provided	GPathogenic
Select item 2427095	NC_000015.9:g.(?_72978569)_(75190071_?)dup	ADPGK, ARID3B +29 more	Duplication	Bardet-Biedl syndrome	GUncertain significance
Select item 1808735	GRCh37/hg19 15q24.1-24.3(chr15:74353736-77884397)x1	ARID3B, C15orf39 +48 more	Copy number loss	not provided	GPathogenic
Select item 1703679	GRCh37/hg19 15q24.1-24.2(chr15:74398068-76054094)	ARID3B, C15orf39 +34 more	Copy number loss	Hearing impairment	GPathogenic
Select item 1353978	NC_000015.9:g.(?_72978569)_(75722716_?)del	ADPGK, ARID3B +41 more	Deletion	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980532	GRCh37/hg19 15q24.1-24.2(chr15:74398162-76054094)x1	ARID3B, C15orf39 +34 more	Copy number loss	not provided	GPathogenic
Select item 815734	GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1	ADPGK, ARID3B +37 more	Copy number loss	not provided	GPathogenic
Select item 688538	GRCh37/hg19 15q24.1-24.2(chr15:72943184-75544524)x1	ADPGK, ARID3B +36 more	Copy number loss	not provided	GPathogenic
Select item 687513	GRCh37/hg19 15q24.1-24.2(chr15:72963271-76064900)x3	ADPGK, ARID3B +47 more	Copy number gain	not provided	GPathogenic
Select item 687381	GRCh37/hg19 15q24.1-24.2(chr15:72926922-75544524)x1	ADPGK, ARID3B +36 more	Copy number loss	not provided	GPathogenic
Select item 564215	GRCh37/hg19 15q24.1-24.2(chr15:72943184-76072324)x1	ADPGK, ARID3B +48 more	Copy number loss	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560117	Single allele	ADPGK, ARID3B +37 more	Deletion	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 443649	GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1	ADPGK, ARID3B +37 more	Copy number loss	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 441056	GRCh37/hg19 15q24.1-24.2(chr15:72958539-76063285)x1	ADPGK, STOML1 +48 more	Copy number loss	not provided	Gnot provided
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	AAGAB, ABHD17C +446 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic
Select item 254015	GRCh37/hg19 15q24.1-24.3(chr15:74368270-78122737)x3	ARID3B, C15orf39 +49 more	Copy number gain	See cases	GUncertain significance
Select item 253605	GRCh37/hg19 15q24.1-24.2(chr15:72998989-76069787)x3	ADPGK, ARID3B +47 more	Copy number gain	See cases	GPathogenic
Select item 253560	GRCh37/hg19 15q24.1-24.2(chr15:72958539-75569605)x1	ADPGK, ARID3B +37 more	Copy number loss	See cases	GPathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic

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Items: 53