ClinVar for Gene (Select 8800) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305832	NM_003847.3(PEX11A):c.508G>C (p.Ala170Pro)	PEX11A (A170P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305831	NM_003847.3(PEX11A):c.386A>G (p.Tyr129Cys)	PEX11A (Y129C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3243685	NC_000015.9:g.(?_89379429)_(91312836_?)del	ABHD2, ACAN +29 more	Deletion	D-2-hydroxyglutaric aciduria 2 +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	FANCI, KIF7 +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	CGNL1, MAPDA +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	PDIA3, PEAK1 +521 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)	NOX5, NPAP1 +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	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +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	WHAMM, CCNB2 +308 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 +278 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	LOC130057929, LOC130057930 +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	MIR11181, MIR1179 +517 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130057997, LOC130057998 +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	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 74