PPARGC1A[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	ABLIM2, ACOX3 +1209 more	Copy number gain	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	LOC129992439, LOC129992440 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992004, LOC129992005 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992188, LOC129992189 +832 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	LOC123477718, LOC123477719 +987 more	Copy number gain	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2445987	GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)	FGFBP1, LOC126806998 +393 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 146534	GRCh38/hg38 4p15.32-15.1(chr4:16925022-32113076)x1	ADGRA3, ANAPC4 +201 more	Copy number loss	See cases	GPathogenic
Select item 931520	NM_013261.5(PPARGC1A):c.2375C>A (p.Ala792Asp)	PPARGC1A (A665D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 713696	NM_013261.5(PPARGC1A):c.2142-8C>T	PPARGC1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2237828	NM_013261.5(PPARGC1A):c.2131C>T (p.Arg711Trp)	PPARGC1A (R584W +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2249198	NM_013261.5(PPARGC1A):c.2122G>A (p.Val708Ile)	PPARGC1A (V581I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2615270	NM_013261.5(PPARGC1A):c.1985C>T (p.Ala662Val)	PPARGC1A (A535V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3056132	NM_013261.5(PPARGC1A):c.1835C>T (p.Thr612Met)	PPARGC1A (T485M +3 more)	Single nucleotide variant (missense variant +1 more)	PPARGC1A-related condition	GBenign
Select item 790391	NM_013261.5(PPARGC1A):c.1832G>A (p.Arg611His)	PPARGC1A (R599H +3 more)	Single nucleotide variant (missense variant +1 more)	PPARGC1A-related condition +1 more	GBenign/Likely benign
Select item 2468723	NM_013261.5(PPARGC1A):c.1727G>A (p.Arg576Lys)	PPARGC1A (R564K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 778140	NM_013261.5(PPARGC1A):c.1696C>T (p.Arg566Cys)	PPARGC1A (R439C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3060606	NM_013261.5(PPARGC1A):c.1584G>A (p.Thr528=)	PPARGC1A	Single nucleotide variant (synonymous variant +1 more)	PPARGC1A-related condition	GBenign
Select item 2635031	NM_013261.5(PPARGC1A):c.1486A>C (p.Lys496Gln)	PPARGC1A (K369Q +3 more)	Single nucleotide variant (missense variant +1 more)	PPARGC1A-related condition	GUncertain significance
Select item 3060597	NM_013261.5(PPARGC1A):c.1444G>A (p.Gly482Ser)	PPARGC1A (G355S +3 more)	Single nucleotide variant (missense variant +1 more)	PPARGC1A-related condition	GBenign
Select item 2546349	NM_013261.5(PPARGC1A):c.1432G>A (p.Ala478Thr)	PPARGC1A (A466T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 718433	NM_013261.5(PPARGC1A):c.1428C>T (p.Asp476=)	PPARGC1A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 3037609	NM_013261.5(PPARGC1A):c.1425C>T (p.Asp475=)	PPARGC1A	Single nucleotide variant (synonymous variant +1 more)	PPARGC1A-related condition	GBenign
Select item 2334831	NM_013261.5(PPARGC1A):c.1376G>A (p.Arg459Gln)	PPARGC1A (R332Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 778141	NM_013261.5(PPARGC1A):c.1313T>C (p.Leu438Ser)	PPARGC1A (L311S +3 more)	Single nucleotide variant (missense variant +1 more)	PPARGC1A-related condition +1 more	GBenign
Select item 745082	NM_013261.5(PPARGC1A):c.1263G>A (p.Gly421=)	PPARGC1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2541292	NM_013261.5(PPARGC1A):c.1241A>G (p.Asp414Gly)	PPARGC1A (D414G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 788779	NM_013261.5(PPARGC1A):c.1228C>A (p.Leu410Ile)	PPARGC1A (L283I +3 more)	Single nucleotide variant (missense variant +1 more)	PPARGC1A-related condition +1 more	GBenign
Select item 2654695	NM_013261.5(PPARGC1A):c.1215A>G (p.Gln405=)	PPARGC1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2540349	NM_013261.5(PPARGC1A):c.1059G>C (p.Glu353Asp)	PPARGC1A (E358D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258425	NM_013261.5(PPARGC1A):c.953C>T (p.Ser318Phe)	PPARGC1A (S323F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608051	NM_013261.5(PPARGC1A):c.836C>T (p.Thr279Ile)	PPARGC1A (T152I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3034797	NM_013261.5(PPARGC1A):c.803+8T>C	PPARGC1A	Single nucleotide variant (intron variant)	PPARGC1A-related condition	GLikely benign
Select item 3060360	NM_013261.5(PPARGC1A):c.758-7dup	PPARGC1A	Duplication (intron variant)	PPARGC1A-related condition	GBenign
Select item 708680	NM_013261.5(PPARGC1A):c.758-6C>T	PPARGC1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3035609	NM_013261.5(PPARGC1A):c.758-7del	PPARGC1A	Deletion (intron variant)	PPARGC1A-related condition	GLikely benign
Select item 724253	NM_013261.5(PPARGC1A):c.612A>G (p.Arg204=)	PPARGC1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2276810	NM_013261.5(PPARGC1A):c.545T>C (p.Ile182Thr)	PPARGC1A (I182T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2396650	NM_013261.5(PPARGC1A):c.406C>A (p.Gln136Lys)	PPARGC1A (Q124K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 713303	NM_013261.5(PPARGC1A):c.390C>T (p.Asp130=)	PPARGC1A	Single nucleotide variant (synonymous variant +1 more)	PPARGC1A-related condition +1 more	GBenign
Select item 734802	NM_013261.5(PPARGC1A):c.366G>A (p.Glu122=)	PPARGC1A	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2204722	NM_013261.5(PPARGC1A):c.343G>C (p.Gly115Arg)	PPARGC1A (G103R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3043355	NM_013261.5(PPARGC1A):c.333G>T (p.Ala111=)	PPARGC1A	Single nucleotide variant (synonymous variant +2 more)	PPARGC1A-related condition	GLikely benign
Select item 146078	GRCh38/hg38 4p15.2(chr4:23862000-27685546)x1	ANAPC4, CCDC149 +101 more	Copy number loss	See cases	GPathogenic
Select item 3044920	NM_013261.5(PPARGC1A):c.234+53G>A	PPARGC1A (R96Q)	Single nucleotide variant (missense variant +1 more)	PPARGC1A-related condition	GBenign
Select item 2288456	NM_013261.5(PPARGC1A):c.190A>G (p.Ile64Val)	PPARGC1A (I52V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 724550	NM_013261.5(PPARGC1A):c.132C>T (p.Asn44=)	PPARGC1A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2477460	NM_013261.5(PPARGC1A):c.23A>C (p.Gln8Pro)	PPARGC1A (Q8P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 747964	NM_013261.5(PPARGC1A):c.21C>T (p.Asn7=)	PPARGC1A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3029462	NM_013261.5(PPARGC1A):c.14T>A (p.Met5Lys)	PPARGC1A (M5K)	Single nucleotide variant (missense variant +2 more)	PPARGC1A-related condition	GUncertain significance
Select item 2252272	NM_013261.5(PPARGC1A):c.7T>A (p.Trp3Arg)	PPARGC1A (W3R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3052687	NM_001330751.2(PPARGC1A):c.48T>A (p.Leu16=)	PPARGC1A	Single nucleotide variant (synonymous variant +2 more)	PPARGC1A-related condition	GLikely benign
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	ABLIM2, ACOX3 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 1809003	GRCh37/hg19 4p15.32-15.2(chr4:16249194-24864955)x1	ADGRA3, CCDC149 +16 more	Copy number loss	not provided	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1527079	GRCh37/hg19 4p15.2-15.1(chr4:23790131-32302608)	ANAPC4, CCDC149 +15 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527077	GRCh37/hg19 4p15.31-14(chr4:19892850-37325128)	ADGRA3, ANAPC4 +23 more	Copy number loss	not specified	GPathogenic
Select item 1180546	GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	CRMP1, RNF212 +161 more	Copy number gain	not provided	GPathogenic
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 816497	GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1	ADD1, ABLIM2 +146 more	Copy number loss	See cases	GPathogenic
Select item 814537	GRCh37/hg19 4p15.31-15.1(chr4:20406475-29134345)x1	ADGRA3, ANAPC4 +19 more	Copy number loss	not provided	GPathogenic
Select item 814520	GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3	ABLIM2, ACOX3 +161 more	Copy number gain	not provided	GPathogenic
Select item 625782	GRCh37/hg19 4p15.31-15.2(chr4:19186845-24548281)	ADGRA3, DHX15 +5 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 625699	GRCh37/hg19 4p15.33-15.1(chr4:12778849-27760141)	ADGRA3, ANAPC4 +42 more	Copy number loss	not provided	GPathogenic
Select item 562884	GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1	ABLIM2, ACOX3 +108 more	Copy number loss	not provided	GPathogenic
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	AASDH, ABLIM2 +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic
Select item 394001	GRCh37/hg19 4p15.2(chr4:23458442-23830175)x3	PPARGC1A	Copy number gain	See cases	GUncertain significance
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253450	GRCh37/hg19 4p15.2-15.1(chr4:23458442-29252060)x1	ZCCHC4, RBPJ +14 more	Copy number loss	See cases	GPathogenic
Select item 253431	GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1	BOD1L1, LDB2 +161 more	Copy number loss	See cases	GPathogenic

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Items: 78