ClinVar for Gene (Select 64506) - ClinVar

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Links from Gene

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269154	NM_001365242.1(CPEB1):c.1045A>G (p.Ile349Val)	CPEB1 (I322V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269153	NM_001365242.1(CPEB1):c.406C>G (p.Arg136Gly)	CPEB1 (R34G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076622	NM_001365242.1(CPEB1):c.607C>G (p.Leu203Val)	CPEB1 (L101V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076621	NM_001365242.1(CPEB1):c.586C>T (p.Arg196Cys)	CPEB1 (R94C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076620	NM_001365242.1(CPEB1):c.326C>T (p.Ala109Val)	CPEB1 (A109V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076619	NM_001365242.1(CPEB1):c.1614T>G (p.His538Gln)	CPEB1 (H543Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076618	NM_001365242.1(CPEB1):c.1502A>G (p.Asn501Ser)	CPEB1 (N399S +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076617	NM_001365242.1(CPEB1):c.1355G>A (p.Arg452Lys)	CPEB1 (R457K +7 more)	Single nucleotide variant (missense variant)	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 2617258	NM_001365242.1(CPEB1):c.472C>T (p.Leu158Phe)	CPEB1 (L131F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605204	NM_001365242.1(CPEB1):c.969T>G (p.Ser323Arg)	CPEB1 (S323R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602806	NM_001365242.1(CPEB1):c.1214C>T (p.Pro405Leu)	CPEB1 (P291L +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593904	NM_001365242.1(CPEB1):c.458C>T (p.Ser153Leu)	CPEB1 (S126L +2 more)	Single nucleotide variant (missense 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 2579211	GRCh38/hg38 15q25.2(chr15:82130136-82727529)x1	AP3B2, CPEB1 +19 more	Copy number loss	Diamond-Blackfan anemia 4	GPathogenic
Select item 2569164	NM_001365242.1(CPEB1):c.1195C>G (p.Gln399Glu)	CPEB1 (Q302E +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2488728	NM_001365242.1(CPEB1):c.698G>A (p.Arg233His)	CPEB1 (R206H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483952	NM_001365242.1(CPEB1):c.1336C>G (p.Gln446Glu)	CPEB1 (Q193E +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474106	NM_001365242.1(CPEB1):c.419C>T (p.Thr140Ile)	CPEB1 (T38I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470678	NM_001365242.1(CPEB1):c.598C>T (p.Arg200Trp)	CPEB1 (R98W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411913	NM_001365242.1(CPEB1):c.185G>A (p.Arg62Lys)	CPEB1 (R35K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2401283	NM_001365242.1(CPEB1):c.487G>A (p.Gly163Arg)	CPEB1 (G136R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354792	NM_030594.5(CPEB1):c.8T>C (p.Phe3Ser)	CPEB1, CPEB1-AS1 +1 more (F3S)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 2349074	NM_001365242.1(CPEB1):c.781G>A (p.Asp261Asn)	CPEB1 (D159N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348704	NM_030594.5(CPEB1):c.10C>T (p.Pro4Ser)	CPEB1, CPEB1-AS1 +1 more (P4S)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 2347385	NM_001365242.1(CPEB1):c.599G>A (p.Arg200Gln)	CPEB1 (R173Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321482	NM_001365242.1(CPEB1):c.320C>T (p.Thr107Ile)	CPEB1 (T107I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317099	NM_001365242.1(CPEB1):c.1018G>A (p.Val340Met)	CPEB1 (V340M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310618	NM_001365242.1(CPEB1):c.1094G>A (p.Ser365Asn)	CPEB1 (S263N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302297	NM_001365242.1(CPEB1):c.1069A>G (p.Thr357Ala)	CPEB1 (T357A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226737	NM_001365242.1(CPEB1):c.311T>C (p.Leu104Pro)	CPEB1 (L104P +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2205604	NM_001365242.1(CPEB1):c.230G>A (p.Cys77Tyr)	CPEB1 (C50Y +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	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 1809204	GRCh37/hg19 15q25.2(chr15:83246227-83468234)x3	AP3B2, CPEB1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +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 769227	NM_001365242.1(CPEB1):c.864A>G (p.Pro288=)	CPEB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 549641	NM_001365242.1(CPEB1):c.-98+1610_-98+5362del	CPEB1	Deletion (intron variant)	Primary amenorrhea	GUncertain significance
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)	NOX5, NPAP1 +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	CHRFAM7A, CHRM5 +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	ALDH1A2, ALDH1A3 +444 more	Copy number gain	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 253956	GRCh37/hg19 15q25.2(chr15:82133231-83455333)x3	FSD2, EFL1 +6 more	Copy number gain	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 221753	GRCh37/hg19 15q25.2(chr15:83213963-84811815)x1	ADAMTSL3, AP3B2 +11 more	Copy number loss	Premature ovarian failure	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 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 147948	GRCh38/hg38 15q25.2-25.3(chr15:82560915-85185613)x1	ADAMTSL3, ALPK3 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 58083	GRCh38/hg38 15q25.2(chr15:82558402-84121082)x3	LOC130057773, LOC130057774 +72 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 66