PPARA[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	A4GALT, ACR +580 more	Copy number loss	See cases	GPathogenic
Select item 154688	GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	LOC126863184, LOC126863185 +541 more	Copy number gain	See cases	GPathogenic
Select item 146215	GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4	LOC130067605, LOC130067606 +303 more	Copy number gain	See cases	GPathogenic
Select item 153178	GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3	LOC126863187, LOC126863188 +523 more	Copy number gain	See cases	GPathogenic
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic
Select item 147622	GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1	A4GALT, ALG12 +428 more	Copy number loss	See cases	GPathogenic
Select item 57944	GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3	A4GALT, ADM2 +502 more	Copy number gain	See cases	GPathogenic
Select item 57945	GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3	LOC126863187, LOC126863188 +495 more	Copy number gain	See cases	GPathogenic
Select item 148050	GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3	CIMAP1B, CPT1B +492 more	Copy number gain	See cases	GPathogenic
Select item 57669	GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1	LOC130067640, LOC130067641 +483 more	Copy number loss	See cases	GPathogenic
Select item 152914	GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1	ADM2, ALG12 +481 more	Copy number loss	See cases	GPathogenic
Select item 976862	NC_000022.11:g.43032129_50739836del	CRELD2, DENND6B +471 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 152340	GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1	ACR, ADM2 +451 more	Copy number loss	See cases	GPathogenic
Select item 976870	NC_000022.11:g.43802117_50806121del	DENND6B, EFCAB6 +443 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57670	GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1	ACR, ADM2 +441 more	Copy number loss	See cases	GPathogenic
Select item 146121	GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1	ACR, ADM2 +434 more	Copy number loss	See cases	GPathogenic
Select item 146895	GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3	ADM2, ALG12 +428 more	Copy number gain	See cases	GBenign
Select item 976875	NC_000022.11:g.44245760_50806121del	LOC121627953, LOC121627954 +411 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 3062348	GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	CHKB, LOC112695108 +404 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 144383	GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1	ACR, ADM2 +401 more	Copy number loss	See cases	GPathogenic
Select item 976876	NC_000022.11:g.44702479_50806138del	CPT1B, CRELD2 +401 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57672	GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1	ACR, ADM2 +396 more	Copy number loss	See cases	GPathogenic
Select item 147743	GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1	ACR, ADM2 +396 more	Copy number loss	See cases	GPathogenic
Select item 147377	GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3	ACR, ADM2 +396 more	Copy number gain	See cases	GPathogenic
Select item 57947	GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3	LOC130067697, LOC130067698 +396 more	Copy number gain	See cases	GPathogenic
Select item 155419	GRCh38/hg38 22q13.31(chr22:44832749-46353315)x3	ARHGAP8, ATXN10 +105 more	Copy number gain	See cases	GUncertain significance
Select item 57264	GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1	ACR, ADM2 +371 more	Copy number loss	See cases	GPathogenic
Select item 149163	GRCh38/hg38 22q13.31(chr22:45445795-47832195)x1	LOC126863174, LOC126863175 +129 more	Copy number loss	See cases	GUncertain significance
Select item 57673	GRCh38/hg38 22q13.31-13.33(chr22:45648256-50739836)x1	ACR, ADM2 +343 more	Copy number loss	See cases	GPathogenic
Select item 976865	NC_000022.11:g.45708330_50737364del	TRABD, TRABD-AS1 +338 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976872	NC_000022.11:g.45819932_50737806del	ADM2, ALG12 +333 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 59094	GRCh38/hg38 22q13.31(chr22:45954698-47245325)x3	CDPF1, CELSR1 +99 more	Copy number gain	See cases	GUncertain significance
Select item 57398	GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1	ACR, ADM2 +315 more	Copy number loss	See cases	GPathogenic
Select item 161059	GRCh38/hg38 22q13.31(chr22:46183346-46791748)x3	CDPF1, CELSR1 +57 more	Copy number gain	See cases	GUncertain significance
Select item 35217	GRCh38/hg38 22q13.31(chr22:46183346-46791748)x3	CDPF1, CELSR1 +57 more	Copy number gain	See cases	GUncertain significance
Select item 3309071	NM_005036.6(PPARA):c.19C>G (p.Pro7Ala)	PPARA (P7A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047077	NM_005036.6(PPARA):c.39A>G (p.Pro13=)	PPARA	Single nucleotide variant (synonymous variant)	PPARA-related disorder	GLikely benign
Select item 2217947	NM_005036.6(PPARA):c.43G>C (p.Glu15Gln)	PPARA (E15Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533868	NM_005036.6(PPARA):c.185G>T (p.Gly62Val)	PPARA (G62V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217009	NM_005036.6(PPARA):c.197C>T (p.Ser66Leu)	PPARA (S66L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731182	NM_005036.6(PPARA):c.245C>T (p.Thr82Ile)	PPARA (T82I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 738459	NM_005036.6(PPARA):c.315C>T (p.Cys105=)	PPARA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2215016	NM_005036.6(PPARA):c.422G>A (p.Arg141His)	PPARA (R141H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484135	NM_005036.6(PPARA):c.440A>G (p.Lys147Arg)	PPARA (K147R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217010	NM_005036.6(PPARA):c.443A>G (p.Lys148Arg)	PPARA (K148R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 13701	NM_005036.6(PPARA):c.484C>G (p.Leu162Val)	PPARA (L162V)	Single nucleotide variant (missense variant)	Hyperapobetalipoproteinemia, susceptibility to	GBenign
Select item 3309072	NM_005036.6(PPARA):c.524G>A (p.Arg175Gln)	PPARA (R175Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 727172	NM_005036.6(PPARA):c.550C>T (p.Leu184=)	PPARA	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2486341	NM_005036.6(PPARA):c.557C>T (p.Ala186Val)	PPARA (A186V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321775	NM_005036.6(PPARA):c.601G>A (p.Ala201Thr)	PPARA (A201T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526984	NM_005036.6(PPARA):c.628A>C (p.Ile210Leu)	PPARA (I210L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1124655	NM_005036.6(PPARA):c.634G>A (p.Glu212Lys)	PPARA (E212K)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2217740	NM_005036.6(PPARA):c.656A>G (p.Asn219Ser)	PPARA (N219S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 770476	NM_005036.6(PPARA):c.680T>C (p.Val227Ala)	PPARA (V227A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 786696	NM_005036.6(PPARA):c.705C>T (p.Asn235=)	PPARA	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3041835	NM_005036.6(PPARA):c.803C>T (p.Ala268Val)	PPARA (A263V +1 more)	Single nucleotide variant (missense variant +1 more)	PPARA-related disorder	GLikely benign
Select item 2488242	NM_005036.6(PPARA):c.871G>A (p.Ala291Thr)	PPARA (A286T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309073	NM_005036.6(PPARA):c.977A>G (p.Asn326Ser)	PPARA (N326S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 766219	NM_005036.6(PPARA):c.984C>T (p.Asp328=)	PPARA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 734299	NM_005036.6(PPARA):c.993G>A (p.Leu331=)	PPARA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 744956	NM_005036.6(PPARA):c.1160-3T>C	PPARA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2483654	NM_005036.6(PPARA):c.1207G>A (p.Gly403Ser)	PPARA (G403S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233869	NM_005036.6(PPARA):c.1349C>T (p.Thr450Met)	PPARA (T233M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 757505	NM_005036.6(PPARA):c.1365G>A (p.Ala455=)	PPARA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3248117	NC_000022.10:g.(?_45958792)_(46971995_?)del	ATXN10, CDPF1 +11 more	Deletion	not provided	GPathogenic
Select item 3062463	GRCh37/hg19 22q13.2-13.31(chr22:43920110-46548382)x1	ARHGAP8, ATXN10 +24 more	Copy number loss	not specified	GLikely pathogenic
Select item 3062451	GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	A4GALT, ADM2 +78 more	Copy number loss	not specified	GPathogenic
Select item 3062449	GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1	ACR, ADM2 +69 more	Copy number loss	not specified	GPathogenic
Select item 3062442	GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1	CELSR1, CERK +64 more	Copy number loss	not specified	GPathogenic
Select item 2685682	GRCh37/hg19 22q13.31-13.33(chr22:45611226-51197838)x1	CELSR1, CERK +55 more	Copy number loss	not provided	GPathogenic
Select item 2684939	GRCh37/hg19 22q13.31-13.33(chr22:45657164-51197838)x3	ACR, ADM2 +54 more	Copy number gain	not provided	GPathogenic
Select item 2672923	GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1	GTSE1, HDAC10 +71 more	Copy number loss	not provided	GPathogenic
Select item 1808266	GRCh37/hg19 22q13.31-13.33(chr22:44390702-51137629)x1	ADM2, ALG12 +64 more	Copy number loss	not provided	GPathogenic
Select item 1808203	GRCh37/hg19 22q13.31-13.33(chr22:45889148-51197838)x1	CDPF1, CELSR1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1807848	GRCh37/hg19 22q13.31-13.33(chr22:45977415-51183840)x1	ACR, ADM2 +50 more	Copy number loss	not provided	GPathogenic
Select item 1807836	GRCh37/hg19 22q13.31-13.33(chr22:45977448-51197838)x1	ACR, ADM2 +50 more	Copy number loss	not provided	GPathogenic
Select item 1807817	GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)x1	ACR, ADM2 +69 more	Copy number loss	not provided	GPathogenic
Select item 1803808	GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3	MIOX, MPPED1 +76 more	Copy number gain	not provided	GPathogenic
Select item 1526739	GRCh37/hg19 22q13.2-13.31(chr22:43451316-46662660)	ARHGAP8, ATXN10 +33 more	Copy number loss	not specified	GPathogenic
Select item 1526738	GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838)	A4GALT, ACR +82 more	Copy number loss	not specified	GPathogenic
Select item 1330161	GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1	A4GALT, ACR +96 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 997819	Single allele	BIK, BRD1 +94 more	Deletion	Intellectual disability	GPathogenic
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 932299	Single allele	ATXN10, BRD1 +45 more	Copy number loss	22q13.3 interstitial deletion	GPathogenic
Select item 929345	GRCh37/hg19 22q13.31(chr22:46421842-46964908)x1	CDPF1, CELSR1 +8 more	Copy number loss	See cases	GLikely pathogenic
Select item 816565	GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	A4GALT, ACO2 +126 more	Copy number gain	not provided	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 688513	GRCh37/hg19 22q13.31-13.33(chr22:46432744-51197838)x3	ACR, ADM2 +47 more	Copy number gain	not provided	GPathogenic
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 625738	GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759)	ACR, ADM2 +60 more	Copy number loss	not provided	GPathogenic
Select item 625737	GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	A4GALT, ACR +92 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 565054	GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1	A4GALT, ACR +83 more	Copy number loss	not provided	GPathogenic
Select item 565053	GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1	A4GALT, ACR +79 more	Copy number loss	not provided	GPathogenic
Select item 565052	GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1	ACR, ADM2 +77 more	Copy number loss	not provided	GPathogenic
Select item 565051	GRCh37/hg19 22q13.31-13.33(chr22:44789956-51183840)x1	ACR, ADM2 +61 more	Copy number loss	not provided	GPathogenic
Select item 565050	GRCh37/hg19 22q13.31-13.33(chr22:45994305-51183840)x1	ACR, ADM2 +50 more	Copy number loss	not provided	GPathogenic

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