ClinVar for Gene (Select 64784) - ClinVar

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Links from Gene

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269633	NM_022769.5(CRTC3):c.268C>T (p.Arg90Cys)	CRTC3 (R90C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269632	NM_022769.5(CRTC3):c.1234A>G (p.Thr412Ala)	CRTC3, CRTC3-AS1 (T412A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269631	NM_022769.5(CRTC3):c.1555C>G (p.Leu519Val)	CRTC3, CRTC3-AS1 +1 more (L519V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3269629	NM_022769.5(CRTC3):c.404G>A (p.Ser135Asn)	CRTC3 (S135N)	Single nucleotide variant (missense variant)	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 3077685	NM_022769.5(CRTC3):c.779G>A (p.Gly260Asp)	CRTC3, CRTC3-AS1 (G260D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077684	NM_022769.5(CRTC3):c.51G>C (p.Glu17Asp)	CRTC3, LOC130057919 (E17D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077683	NM_022769.5(CRTC3):c.467C>T (p.Ala156Val)	CRTC3 (A156V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077682	NM_022769.5(CRTC3):c.1787A>G (p.Asn596Ser)	CRTC3, CRTC3-AS1 (N595S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077680	NM_022769.5(CRTC3):c.1630C>G (p.Leu544Val)	CRTC3, CRTC3-AS1 +1 more (L544V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3077679	NM_022769.5(CRTC3):c.1485C>G (p.Asn495Lys)	CRTC3, CRTC3-AS1 (N495K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077677	NM_022769.5(CRTC3):c.1427C>T (p.Ser476Phe)	CRTC3, CRTC3-AS1 (S476F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077676	NM_022769.5(CRTC3):c.1424C>G (p.Ala475Gly)	CRTC3, CRTC3-AS1 (A475G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077675	NM_022769.5(CRTC3):c.1168G>A (p.Val390Ile)	CRTC3, CRTC3-AS1 (V390I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685533	GRCh37/hg19 15q26.1(chr15:90880679-91080606)x1	CRTC3, IQGAP1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2645708	NM_022769.5(CRTC3):c.126G>A (p.Leu42=)	CRTC3, LOC130057919	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2590965	NM_022769.5(CRTC3):c.1584G>T (p.Gln528His)	CRTC3, CRTC3-AS1 +1 more (Q528H)	Single nucleotide variant (non-coding transcript variant +1 more)	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 2569766	NM_022769.5(CRTC3):c.1460C>T (p.Pro487Leu)	CRTC3, CRTC3-AS1 (P487L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552248	NM_022769.5(CRTC3):c.166A>C (p.Thr56Pro)	CRTC3 (T56P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541879	NM_022769.5(CRTC3):c.458T>C (p.Leu153Pro)	CRTC3 (L153P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522014	NM_022769.5(CRTC3):c.1624G>A (p.Gly542Arg)	CRTC3, CRTC3-AS1 +1 more (G542R)	Single nucleotide variant (non-coding transcript variant +1 more)	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 2491921	NM_022769.5(CRTC3):c.1267A>G (p.Met423Val)	CRTC3, CRTC3-AS1 (M423V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470586	NM_022769.5(CRTC3):c.552G>C (p.Gln184His)	CRTC3 (Q184H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465235	NM_022769.5(CRTC3):c.965C>T (p.Ser322Phe)	CRTC3, CRTC3-AS1 (S322F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462223	NM_022769.5(CRTC3):c.1439A>T (p.Gln480Leu)	CRTC3, CRTC3-AS1 (Q480L)	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 2410335	NM_022769.5(CRTC3):c.1310A>C (p.Glu437Ala)	CRTC3, CRTC3-AS1 (E437A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391711	NM_022769.5(CRTC3):c.1610C>T (p.Pro537Leu)	CRTC3, CRTC3-AS1 +1 more (P537L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2383553	NM_022769.5(CRTC3):c.1058C>T (p.Ser353Phe)	CRTC3, CRTC3-AS1 (S353F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344061	NM_022769.5(CRTC3):c.377A>G (p.Asn126Ser)	CRTC3 (N126S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321064	NM_022769.5(CRTC3):c.1253A>G (p.Tyr418Cys)	CRTC3, CRTC3-AS1 (Y418C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310798	NM_022769.5(CRTC3):c.1568G>A (p.Gly523Asp)	CRTC3, CRTC3-AS1 +1 more (G523D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2308636	NM_022769.5(CRTC3):c.1181C>T (p.Thr394Met)	CRTC3, CRTC3-AS1 (T394M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301072	NM_022769.5(CRTC3):c.1007C>T (p.Thr336Met)	CRTC3, CRTC3-AS1 (T336M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290801	NM_022769.5(CRTC3):c.1501G>C (p.Gly501Arg)	CRTC3, CRTC3-AS1 (G501R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286817	NM_022769.5(CRTC3):c.1678G>T (p.Asp560Tyr)	CRTC3, CRTC3-AS1 (D559Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247940	NM_022769.5(CRTC3):c.355G>A (p.Asp119Asn)	CRTC3 (D119N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 815743	GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1	ABHD2, ACAN +76 more	Copy number loss	not provided	GPathogenic
Select item 718783	NM_022769.5(CRTC3):c.1692G>A (p.Ala564=)	CRTC3, CRTC3-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 718782	NM_022769.5(CRTC3):c.663G>A (p.Pro221=)	CRTC3	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 161762	NM_022769.5(CRTC3):c.1387C>A (p.Arg463Ser)	CRTC3, CRTC3-AS1 (R463S)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
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 146712	GRCh38/hg38 15q26.1(chr15:90216530-90767025)x1	BLM, CIB1 +44 more	Copy number loss	See cases	GUncertain significance
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

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Items: 78