ClinVar for Gene (Select 8800) - ClinVar

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Links from Gene

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243685	NC_000015.9:g.(?_89379429)_(91312836_?)del	ABHD2, ACAN +29 more	Deletion	Bloom syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3211489	NM_003847.3(PEX11A):c.665T>C (p.Ile222Thr)	PEX11A (I222T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211488	NM_003847.3(PEX11A):c.513G>C (p.Glu171Asp)	PEX11A (E140D +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3211487	NM_003847.3(PEX11A):c.415C>G (p.Leu139Val)	PEX11A (L108V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211486	NM_003847.3(PEX11A):c.114A>T (p.Lys38Asn)	PEX11A (K38N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685530	GRCh37/hg19 15q26.1(chr15:89976407-90387346)x1	PLIN1, TICRR +10 more	Copy number loss	not provided	GUncertain significance
Select item 2645697	NM_003847.3(PEX11A):c.394C>G (p.Leu132Val)	PEX11A (L101V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2645696	NM_003847.3(PEX11A):c.480A>T (p.Ala160=)	PEX11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2610355	NM_003847.3(PEX11A):c.206A>G (p.Gln69Arg)	PEX11A (Q69R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2606541	NM_003847.3(PEX11A):c.718C>A (p.Pro240Thr)	PEX11A (P95T +2 more)	Single nucleotide variant (missense variant)	not specified	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 2529041	NM_003847.3(PEX11A):c.7G>T (p.Ala3Ser)	LOC130057887, PEX11A +1 more (A3S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518857	NM_003847.3(PEX11A):c.723G>C (p.Gln241His)	PEX11A (Q96H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	ABHD2, ACAN +86 more	Copy number gain	not provided	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 2484031	NM_003847.3(PEX11A):c.514G>A (p.Glu172Lys)	PEX11A (E27K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483095	NM_003847.3(PEX11A):c.167G>A (p.Arg56His)	PEX11A (R56H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468068	NM_003847.3(PEX11A):c.224T>C (p.Ile75Thr)	PEX11A (I75T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2465224	NM_003847.3(PEX11A):c.128T>C (p.Met43Thr)	PEX11A (M43T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459370	NM_003847.3(PEX11A):c.359G>A (p.Arg120Gln)	PEX11A (R120Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2422891	NC_000015.9:g.(?_89379429)_(91565479_?)dup	ABHD2, ACAN +37 more	Duplication	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 2399725	NM_003847.3(PEX11A):c.437T>G (p.Met146Arg)	PEX11A (M115R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391500	NM_003847.3(PEX11A):c.458G>C (p.Arg153Thr)	PEX11A (R122T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372825	NM_003847.3(PEX11A):c.76A>G (p.Met26Val)	PEX11A (M26V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354682	NM_003847.3(PEX11A):c.613A>C (p.Ile205Leu)	PEX11A (I174L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342958	NM_003847.3(PEX11A):c.247C>T (p.Arg83Cys)	PEX11A (R83C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2323169	NM_003847.3(PEX11A):c.739C>T (p.Arg247Cys)	PEX11A (R216C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291531	NM_003847.3(PEX11A):c.152G>A (p.Ser51Asn)	PEX11A (S51N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288330	NM_003847.3(PEX11A):c.611A>C (p.Asp204Ala)	PEX11A (D204A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272162	NM_003847.3(PEX11A):c.237C>A (p.Asp79Glu)	PEX11A (D79E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2267528	NM_003847.3(PEX11A):c.17G>A (p.Arg6His)	LOC130057887, PEX11A +1 more (R6H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251382	NM_003847.3(PEX11A):c.473A>T (p.Lys158Ile)	PEX11A (K13I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250150	NM_003847.3(PEX11A):c.658G>C (p.Gly220Arg)	PEX11A (G189R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243168	NM_003847.3(PEX11A):c.25A>C (p.Asn9His)	LOC130057887, PEX11A +1 more (N9H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236747	NM_003847.3(PEX11A):c.322G>A (p.Val108Ile)	PEX11A (V108I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206608	NM_003847.3(PEX11A):c.691A>G (p.Ile231Val)	PEX11A (I200V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 1448361	NC_000015.9:g.(?_89859982)_(90294462_?)dup	MIR9-3, WDR93 +9 more	Duplication	not provided	GUncertain significance
Select item 1340806	GRCh37/hg19 15q26.1(chr15:89520451-93926491)x1	ABHD2, ANPEP +41 more	Copy number loss	not provided	GPathogenic
Select item 1328111	GRCh37/hg19 15q25.3-26.2(chr15:88465861-94411846)x1	ABHD2, ACAN +50 more	Copy number loss	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 983158	GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1	ABHD2, ACAN +77 more	Copy number loss	See cases	GPathogenic
Select item 815745	GRCh37/hg19 15q26.1(chr15:90111672-90671886)x3	ARPIN-AP3S2, ZNF710 +11 more	Copy number gain	not provided	GUncertain significance
Select item 815743	GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1	ABHD2, ACAN +76 more	Copy number loss	not provided	GPathogenic
Select item 625751	GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844)	ABHD2, ACAN +58 more	Copy number loss	not provided	GPathogenic
Select item 564229	GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3	ABHD2, ADAMTS17 +66 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 443650	GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3	ABHD2, ACAN +55 more	Copy number gain	See cases	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 395560	GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3	ABHD2, ACAN +79 more	Copy number gain	See cases	GPathogenic
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 394871	GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3	ABHD2, ACAN +87 more	Copy number gain	See cases	GPathogenic
Select item 394427	GRCh37/hg19 15q26.1(chr15:90220524-90233921)x1	PEX11A, PLIN1	Copy number loss	See cases	GUncertain significance
Select item 393972	GRCh37/hg19 15q25.3-26.1(chr15:88295992-94215607)x1	FANCI, FES +50 more	Copy number loss	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 253910	GRCh37/hg19 15q26.1(chr15:90220524-90265367)x1	PEX11A, PLIN1 +1 more	Copy number loss	See cases	GUncertain significance
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 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	LOC126862240, LOC126862241 +311 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	LOC121530602, LOC121530603 +517 more	Copy number gain	See cases	GPathogenic
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 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	ABHD2, ACAN +630 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC129390732, LOC129390733 +500 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	LOC130057938, LOC130057939 +611 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 72