28443[HGNC] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 58083	GRCh38/hg38 15q25.2(chr15:82558402-84121082)x3	LOC130057773, LOC130057774 +72 more	Copy number gain	See cases	GPathogenic
Select item 147948	GRCh38/hg38 15q25.2-25.3(chr15:82560915-85185613)x1	ADAMTSL3, ALPK3 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 155058	GRCh38/hg38 15q25.2-25.3(chr15:82627214-85243616)x1	ADAMTSL3, ALPK3 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057831, LOC130057832 +664 more	Copy number gain	See cases	GPathogenic
Select item 3151350	NM_031452.4(RAMAC):c.72G>T (p.Lys24Asn)	C15orf40, RAMAC (K24N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312656	NM_031452.4(RAMAC):c.166A>C (p.Asn56His)	C15orf40, RAMAC (N56H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151345	NM_031452.4(RAMAC):c.167A>G (p.Asn56Ser)	C15orf40, RAMAC (N56S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614719	NM_031452.4(RAMAC):c.178G>A (p.Asp60Asn)	C15orf40, RAMAC (D60N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312653	NM_031452.4(RAMAC):c.211T>G (p.Trp71Gly)	C15orf40, RAMAC (W71G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312655	NM_031452.4(RAMAC):c.220C>T (p.Pro74Ser)	C15orf40, RAMAC (P74S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480768	NM_031452.4(RAMAC):c.233G>A (p.Arg78Gln)	C15orf40, RAMAC (R78Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151346	NM_031452.4(RAMAC):c.246G>T (p.Trp82Cys)	C15orf40, RAMAC (W82C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151347	NM_031452.4(RAMAC):c.267C>A (p.Asn89Lys)	C15orf40, RAMAC (N89K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151348	NM_031452.4(RAMAC):c.319T>C (p.Tyr107His)	C15orf40, RAMAC (Y107H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151349	NM_031452.4(RAMAC):c.346G>A (p.Gly116Ser)	C15orf40, RAMAC (G116S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2681669	NM_144597.3(C15orf40):c.366+56A>G	C15orf40 (K141R)	Single nucleotide variant (missense variant +2 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2403622	NM_144597.3(C15orf40):c.74G>A (p.Cys25Tyr)	C15orf40 (C25Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295776	NM_144597.3(C15orf40):c.65G>A (p.Arg22Gln)	C15orf40 (R22Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685526	GRCh37/hg19 15q25.2(chr15:83220107-84811774)x1	BTBD1, SCARNA15 +11 more	Copy number loss	not provided	GPathogenic
Select item 2684766	GRCh37/hg19 15q25.2-25.3(chr15:83169558-85779567)x3	ADAMTSL3, ALPK3 +19 more	Copy number gain	not provided	GUncertain significance
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 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ARPIN-AP3S2, COMMD4 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980540	GRCh37/hg19 15q25.2-25.3(chr15:83201955-85786847)x1	ADAMTSL3, ALPK3 +19 more	Copy number loss	not provided	GPathogenic
Select item 688687	GRCh37/hg19 15q25.1-25.2(chr15:80728654-84107646)x1	ABHD17C, AP3B2 +22 more	Copy number loss	not provided	GPathogenic
Select item 687860	GRCh37/hg19 15q25.2(chr15:82688216-84796779)x1	ADAMTSL3, AP3B2 +12 more	Copy number loss	not provided	GPathogenic
Select item 685629	GRCh37/hg19 15q25.2(chr15:82468371-84797068)x3	ADAMTSL3, AP3B2 +14 more	Copy number gain	not provided	GUncertain significance
Select item 666438	GRCh37/hg19 15q25.2(chr15:83214012-84772030)x1	TM6SF1, WHAMM +11 more	Copy number loss	not provided	GPathogenic
Select item 564223	GRCh37/hg19 15q25.1-25.3(chr15:79023343-87158823)x1,2	ABHD17C, ADAMTS7 +49 more	Copy number gain	not provided	GPathogenic
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	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 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 549640	NC_000015.9:g.83214012_84812693del1598682	ADAMTSL3, AP3B2 +11 more	Deletion	Primary amenorrhea	GLikely pathogenic
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +153 more	Copy number gain	See cases	GPathogenic
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 441779	GRCh37/hg19 15q25.2(chr15:82606408-84970771)x3	ADAMTSL3, AP3B2 +12 more	Copy number gain	See cases	GUncertain significance
Select item 441679	GRCh37/hg19 15q25.2(chr15:83169558-84847653)x1	ADAMTSL3, AP3B2 +11 more	Copy number loss	See cases	GLikely pathogenic
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 395044	GRCh37/hg19 15q25.1-25.2(chr15:80703867-83955596)x1	ABHD17C, AP3B2 +22 more	Copy number loss	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 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic
Select item 221753	GRCh37/hg19 15q25.2(chr15:83213963-84811815)x1	ADAMTSL3, AP3B2 +11 more	Copy number loss	Premature ovarian failure	GLikely pathogenic

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Items: 47