ClinVar for Gene (Select 2242) - ClinVar

Links from Gene

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3278533	NM_002005.4(FES):c.1994G>A (p.Gly665Glu)	FES (G595E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278532	NM_002005.4(FES):c.1907T>C (p.Met636Thr)	FES (M578T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278531	NM_002005.4(FES):c.649G>A (p.Glu217Lys)	FES (E159K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278530	NM_002005.4(FES):c.1630G>A (p.Val544Ile)	FES (V474I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3278528	NM_002005.4(FES):c.1251G>C (p.Glu417Asp)	FES (E359D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094497	NM_002005.4(FES):c.85G>C (p.Gly29Arg)	FES (G29R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094496	NM_002005.4(FES):c.836C>T (p.Thr279Met)	FES (T221M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094495	NM_002005.4(FES):c.811G>A (p.Ala271Thr)	FES (A271T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3094493	NM_002005.4(FES):c.574G>C (p.Ala192Pro)	FES (A134P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094492	NM_002005.4(FES):c.479G>A (p.Ser160Asn)	FES (S102N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094491	NM_002005.4(FES):c.2465G>A (p.Arg822Gln)	FES (R822Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094489	NM_002005.4(FES):c.2332C>T (p.Arg778Cys)	FES (R650C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094488	NM_002005.4(FES):c.2263A>G (p.Ser755Gly)	FES (S685G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094487	NM_002005.4(FES):c.2206C>T (p.Arg736Cys)	FES (R666C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094486	NM_002005.4(FES):c.2134G>T (p.Val712Phe)	FES (V654F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094485	NM_002005.4(FES):c.1946G>T (p.Arg649Leu)	FES (R579L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094484	NM_002005.4(FES):c.1900A>C (p.Ile634Leu)	FES (I576L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094483	NM_002005.4(FES):c.177G>C (p.Gln59His)	FES, LOC130057945 (Q59H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094482	NM_002005.4(FES):c.1742G>A (p.Arg581Gln)	FES (R523Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094481	NM_002005.4(FES):c.1627G>A (p.Val543Ile)	FES (V473I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3094479	NM_002005.4(FES):c.1381T>C (p.Tyr461His)	FES (Y403H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094478	NM_002005.4(FES):c.1346C>T (p.Pro449Leu)	FES (P391L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094477	NM_002005.4(FES):c.1268C>T (p.Thr423Met)	FES (T423M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094476	NM_002005.4(FES):c.1256G>A (p.Gly419Glu)	FES (G361E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094475	NM_002005.4(FES):c.1251G>T (p.Glu417Asp)	FES (E359D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094474	NM_002005.4(FES):c.1235C>T (p.Ser412Leu)	FES (S412L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094473	NM_002005.4(FES):c.1042C>G (p.Arg348Gly)	FES (R290G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094472	NM_002005.4(FES):c.1021G>A (p.Glu341Lys)	FES (E283K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645713	NM_002005.4(FES):c.1926C>A (p.Gly642=)	FES	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2588613	NM_002005.4(FES):c.604C>G (p.Gln202Glu)	FES (Q202E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588162	NM_002005.4(FES):c.14C>T (p.Ser5Phe)	FES (S5F)	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 2549937	NM_002005.4(FES):c.245G>A (p.Gly82Asp)	FES, LOC130057945 (G82D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519872	NM_002005.4(FES):c.1109C>T (p.Ala370Val)	FES (A370V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511975	NM_002005.4(FES):c.1396C>A (p.Pro466Thr)	FES (P408T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507659	NM_002005.4(FES):c.620G>A (p.Gly207Asp)	FES (G207D +1 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 2491749	NM_002005.4(FES):c.724G>T (p.Val242Leu)	FES (V242L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473114	NM_002005.4(FES):c.2464C>T (p.Arg822Trp)	FES (R764W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468716	NM_002005.4(FES):c.1922G>C (p.Gly641Ala)	FES (G641A +3 more)	Single nucleotide variant (missense variant)	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 2405677	NM_002005.4(FES):c.761G>A (p.Arg254His)	FES (R254H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392221	NM_002005.4(FES):c.860A>G (p.Glu287Gly)	FES (E229G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383897	NM_002005.4(FES):c.1954G>T (p.Gly652Trp)	FES (G594W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372033	NM_002005.4(FES):c.797G>A (p.Arg266Gln)	FES (R208Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2344302	NM_002005.4(FES):c.2059C>T (p.Arg687Trp)	FES (R617W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323663	NM_002005.4(FES):c.1026G>T (p.Glu342Asp)	FES (E284D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322697	NM_002005.4(FES):c.1900A>G (p.Ile634Val)	FES (I564V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290526	NM_002005.4(FES):c.1642G>C (p.Ala548Pro)	FES (A420P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288365	NM_002005.4(FES):c.1885A>G (p.Lys629Glu)	FES (K629E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283554	NM_002005.4(FES):c.1898A>C (p.Tyr633Ser)	FES (Y575S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270379	NM_002005.4(FES):c.1047G>C (p.Glu349Asp)	FES (E349D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259589	NM_002005.4(FES):c.995C>T (p.Thr332Met)	FES (T274M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223662	NM_002005.4(FES):c.461G>A (p.Arg154His)	FES (R96H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205577	NM_002005.4(FES):c.675G>C (p.Glu225Asp)	FES (E167D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1810294	GRCh37/hg19 15q26.1(chr15:91422650-91497515)x1	FES, FURIN +3 more	Copy number loss	not provided	Gnot provided
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 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 1027033	NC_000015.9:g.(?_91290623)_(91512067_?)dup	BLM, FES +6 more	Duplication	Bloom syndrome	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 833278	NC_000015.10:g.(?_90782812)_(90968837_?)dup	BLM, FES +6 more	Duplication	Bloom syndrome	GUncertain significance
Select item 815747	GRCh37/hg19 15q26.1(chr15:91347599-91491931)x1	HDDC3, FURIN +4 more	Copy number loss	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 790155	NM_002005.4(FES):c.1764G>A (p.Ala588=)	FES	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776945	NM_002005.4(FES):c.1377G>A (p.Leu459=)	FES	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 773300	NM_002005.4(FES):c.967A>G (p.Met323Val)	FES (M265V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688677	GRCh37/hg19 15q26.1(chr15:91276782-91550953)x1	BLM, FES +7 more	Copy number loss	not provided	GUncertain significance
Select item 687287	GRCh37/hg19 15q26.1(chr15:91229877-93677014)x1	BLM, C15orf32 +14 more	Copy number loss	not provided	GPathogenic
Select item 686177	GRCh37/hg19 15q26.1-26.3(chr15:90288175-102429112)x3	ADAMTS17, ALDH1A3 +54 more	Copy number gain	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 564231	GRCh37/hg19 15q26.1(chr15:91269147-91491760)x3	HDDC3, FES +4 more	Copy number gain	not provided	GUncertain significance
Select item 564230	GRCh37/hg19 15q26.1(chr15:91263414-91502563)x3	MAN2A2, FES +5 more	Copy number gain	not provided	GUncertain significance
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 395056	GRCh37/hg19 15q26.1-26.3(chr15:90346994-102354798)	ADAMTS17, ALDH1A3 +51 more	Copy number loss	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 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 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

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Links from Gene

Items: 100