ClinVar for Gene (Select 10073) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3167116	NM_005701.4(SNUPN):c.824G>T (p.Gly275Val)	SNUPN (G275V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167115	NM_005701.4(SNUPN):c.701A>T (p.Asn234Ile)	SNUPN (N234I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167114	NM_005701.4(SNUPN):c.586T>C (p.Phe196Leu)	SNUPN (F196L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167113	NM_005701.4(SNUPN):c.485G>A (p.Arg162Gln)	SNUPN (R162Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167112	NM_005701.4(SNUPN):c.419G>A (p.Ser140Asn)	SNUPN (S140N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167111	NM_005701.4(SNUPN):c.229G>A (p.Glu77Lys)	SNUPN (E77K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167110	NM_005701.4(SNUPN):c.128G>A (p.Arg43His)	SNUPN (R43H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685524	GRCh37/hg19 15q24.2(chr15:75601120-76081362)x1	CIMAP1C, COMMD4 +8 more	Copy number loss	not provided	GPathogenic
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
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	BLM, BNC1 +209 more	Copy number gain	not provided	GPathogenic
Select item 2477875	NM_005701.4(SNUPN):c.19G>T (p.Ala7Ser)	SNUPN (A7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466334	NM_005701.4(SNUPN):c.164G>A (p.Arg55Gln)	SNUPN (R55Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426847	NC_000015.9:g.(?_75628431)_(76054677_?)del	CIMAP1C, COMMD4 +8 more	Deletion	not provided	GUncertain significance
Select item 2403174	NM_005701.4(SNUPN):c.944G>A (p.Ser315Asn)	SNUPN (S315N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359822	NM_005701.4(SNUPN):c.127C>T (p.Arg43Cys)	SNUPN (R43C)	Single nucleotide variant (missense variant)	not specified	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 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 997817	Single allele	CIMAP1C, COMMD4 +8 more	Deletion	Epilepsy +1 more	GPathogenic
Select item 980533	GRCh37/hg19 15q24.2(chr15:75440382-76133553)x3	SNX33, GOLGA6C +11 more	Copy number gain	not provided	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 687789	GRCh37/hg19 15q24.2(chr15:75508057-76128091)x3	COMMD4, CSPG4 +10 more	Copy number gain	not provided	GUncertain significance
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 685759	GRCh37/hg19 15q24.2(chr15:75309345-75930806)x3	C15orf39, COMMD4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 625749	GRCh37/hg19 15q24.2(chr15:75648132-76102251)	CSPG4, IMP3 +6 more	Copy number loss	not provided	GPathogenic
Select item 564219	GRCh37/hg19 15q24.2(chr15:75768387-75901066)x3	PTPN9, SNUPN	Copy number gain	not provided	GUncertain significance
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 560141	Single allele	COMMD4, CSPG4 +8 more	Duplication	SIN3A-related intellectual disability syndrome due to a point mutation	GUncertain significance
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 545183	Single allele	MIR6882, MPI +258 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 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	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 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 253861	GRCh37/hg19 15q24.2(chr15:75562397-76030552)x3	COMMD4, SNUPN +10 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 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	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 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 153074	GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1	LOC130057567, LOC130057568 +243 more	Copy number loss	See cases	GPathogenic
Select item 59384	GRCh38/hg38 15q24.2(chr15:75596961-76049787)x1	CIMAP1C, CSPG4 +22 more	Copy number loss	See cases	GPathogenic
Select item 59383	GRCh38/hg38 15q24.2(chr15:75432164-75626896)x1	LOC121530594, LOC130057607 +14 more	Copy number loss	See cases	GPathogenic
Select item 58080	GRCh38/hg38 15q24.2(chr15:75336215-75658670)x3	COMMD4, IMP3 +29 more	Copy number gain	See cases	GPathogenic
Select item 57428	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1	ADPGK, ADPGK-AS1 +236 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 50