ClinVar for Gene (Select 23481) - ClinVar

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

Links from Gene

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305822	NM_014303.4(PES1):c.710G>A (p.Arg237His)	PES1 (R237H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305821	NM_014303.4(PES1):c.833C>T (p.Ala278Val)	PES1 (A278V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305820	NM_014303.4(PES1):c.1679G>A (p.Arg560Gln)	PES1 (R555Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211473	NM_014303.4(PES1):c.923C>T (p.Ala308Val)	PES1 (A169V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211472	NM_014303.4(PES1):c.794A>G (p.Tyr265Cys)	PES1 (Y265C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211471	NM_014303.4(PES1):c.709C>T (p.Arg237Cys)	PES1 (R237C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211470	NM_014303.4(PES1):c.443C>T (p.Pro148Leu)	PES1 (P148L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211469	NM_014303.4(PES1):c.329A>G (p.Asn110Ser)	LOC126863119, PES1 (N110S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211468	NM_014303.4(PES1):c.1423G>A (p.Gly475Arg)	PES1 (G336R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211467	NM_014303.4(PES1):c.1163T>C (p.Ile388Thr)	PES1 (I249T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211466	NM_014303.4(PES1):c.1114C>T (p.Arg372Cys)	PES1 (R233C +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3211465	NM_014303.4(PES1):c.1088G>T (p.Gly363Val)	PES1 (G358V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681480	NM_014303.4(PES1):c.226G>A (p.Glu76Lys)	PES1 (E76K)	Single nucleotide variant (missense variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2557560	NM_014303.4(PES1):c.298G>A (p.Glu100Lys)	LOC126863119, PES1 (E100K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547682	NM_014303.4(PES1):c.1343G>A (p.Gly448Glu)	PES1 (G443E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542891	NM_014303.4(PES1):c.32G>A (p.Arg11Gln)	PES1 (R11Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540887	NM_014303.4(PES1):c.250G>A (p.Glu84Lys)	PES1 (E84K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510260	NM_014303.4(PES1):c.1228G>A (p.Val410Met)	PES1 (V410M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509208	NM_014303.4(PES1):c.956C>T (p.Ala319Val)	PES1 (A180V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477139	NM_014303.4(PES1):c.491T>C (p.Leu164Pro)	PES1 (L164P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466073	NM_014303.4(PES1):c.1364A>G (p.Asn455Ser)	PES1 (N455S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464110	NM_014303.4(PES1):c.56C>T (p.Thr19Ile)	PES1 (T19I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463441	NM_014303.4(PES1):c.1112C>T (p.Ser371Phe)	PES1 (S366F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412170	NM_014303.4(PES1):c.71G>A (p.Arg24Gln)	PES1 (R24Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403700	NM_014303.4(PES1):c.1628G>A (p.Arg543Gln)	PES1 (R404Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397336	NM_014303.4(PES1):c.1347G>T (p.Glu449Asp)	PES1 (E310D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391032	NM_014303.4(PES1):c.1483C>G (p.Arg495Gly)	PES1 (R490G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389474	NM_014303.4(PES1):c.751G>A (p.Glu251Lys)	PES1 (E112K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389024	NM_014303.4(PES1):c.743C>T (p.Pro248Leu)	PES1 (P248L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375203	NM_014303.4(PES1):c.527G>A (p.Arg176His)	PES1 (R176H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359325	NM_014303.4(PES1):c.897G>C (p.Glu299Asp)	PES1 (E299D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358030	NM_014303.4(PES1):c.394C>T (p.Arg132Trp)	PES1 (R132W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354623	NM_014303.4(PES1):c.488G>A (p.Arg163Gln)	PES1 (R24Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345219	NM_014303.4(PES1):c.175A>G (p.Thr59Ala)	PES1 (T59A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336495	NM_014303.4(PES1):c.127A>G (p.Ile43Val)	PES1 (I43V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332194	NM_014303.4(PES1):c.796G>A (p.Ala266Thr)	PES1 (A127T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320331	NM_014303.4(PES1):c.535C>T (p.Arg179Cys)	PES1 (R179C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266766	NM_014303.4(PES1):c.910G>A (p.Gly304Arg)	PES1 (G165R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259144	NM_014303.4(PES1):c.1276T>C (p.Phe426Leu)	PES1 (F426L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254782	NM_014303.4(PES1):c.256A>C (p.Lys86Gln)	PES1 (K86Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241699	NM_014303.4(PES1):c.248G>A (p.Arg83His)	PES1 (R83H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236188	NM_014303.4(PES1):c.557A>G (p.Lys186Arg)	PES1 (K186R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229727	NM_014303.4(PES1):c.1340G>A (p.Arg447Gln)	PES1 (R447Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808303	GRCh37/hg19 22q12.2(chr22:30649178-31035087)x3	CASTOR1, CCDC157 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	AP1B1, ASCC2 +71 more	Duplication	not provided	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 717123	NM_014303.4(PES1):c.1725G>A (p.Ala575=)	PES1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 634999	inv(22)(q12.2q12.2)	NEFH, PIK3IP1 +42 more	Inversion	Anaplastic ependymoma	GLikely pathogenic
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 565022	GRCh37/hg19 22q12.2(chr22:29644625-31051719)x1	AP1B1, ASCC2 +32 more	Copy number loss	not provided	GPathogenic
Select item 564994	GRCh37/hg19 22q12.2(chr22:30902886-31260395)x3	GAL3ST1, DUSP18 +5 more	Copy number gain	not provided	GUncertain significance
Select item 442415	GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3	DEPDC5, DRG1 +70 more	Copy number gain	See cases	GLikely pathogenic
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	AP1B1, ASCC2 +260 more	Copy number loss	See cases	GPathogenic
Select item 149559	GRCh38/hg38 22q12.2(chr22:30312256-30950316)x3	CCDC157, DUSP18 +54 more	Copy number gain	See cases	GUncertain significance
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 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: 68