PPARGC1A[gene] and "single gene"[properties] - ClinVar

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

Search results

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309081	NM_013261.5(PPARGC1A):c.2389C>T (p.Arg797Cys)	PPARGC1A (R800C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3341509	NM_013261.5(PPARGC1A):c.2294-4dup	PPARGC1A	Duplication (intron variant)	not provided	GLikely benign
Select item 3217021	NM_013261.5(PPARGC1A):c.2168G>A (p.Arg723His)	PPARGC1A (R723H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3309082	NM_013261.5(PPARGC1A):c.2087G>A (p.Arg696His)	PPARGC1A (R684H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309078	NM_013261.5(PPARGC1A):c.1991A>G (p.Gln664Arg)	PPARGC1A (Q537R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3350394	NM_013261.5(PPARGC1A):c.1926C>T (p.His642=)	PPARGC1A	Single nucleotide variant (synonymous variant +1 more)	PPARGC1A-related disorder	GLikely benign
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 disorder	GBenign
Select item 790391	NM_013261.5(PPARGC1A):c.1832G>A (p.Arg611His)	PPARGC1A (R599H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 3217020	NM_013261.5(PPARGC1A):c.1829A>C (p.His610Pro)	PPARGC1A (H615P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3352124	NM_013261.5(PPARGC1A):c.1794-4G>A	PPARGC1A	Single nucleotide variant (intron variant)	PPARGC1A-related disorder	GLikely benign
Select item 2468723	NM_013261.5(PPARGC1A):c.1727G>A (p.Arg576Lys)	PPARGC1A (R564K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 3217019	NM_013261.5(PPARGC1A):c.1600T>C (p.Phe534Leu)	PPARGC1A (F407L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3060606	NM_013261.5(PPARGC1A):c.1584G>A (p.Thr528=)	PPARGC1A	Single nucleotide variant (synonymous variant +1 more)	PPARGC1A-related disorder	GBenign
Select item 3309083	NM_013261.5(PPARGC1A):c.1571C>T (p.Pro524Leu)	PPARGC1A (P397L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 disorder	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 disorder	GBenign
Select item 2546349	NM_013261.5(PPARGC1A):c.1432G>A (p.Ala478Thr)	PPARGC1A (A466T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 718433	NM_013261.5(PPARGC1A):c.1428C>T (p.Asp476=)	PPARGC1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3037609	NM_013261.5(PPARGC1A):c.1425C>T (p.Asp475=)	PPARGC1A	Single nucleotide variant (synonymous variant +1 more)	PPARGC1A-related disorder	GBenign
Select item 3217018	NM_013261.5(PPARGC1A):c.1381G>A (p.Glu461Lys)	PPARGC1A (E334K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334831	NM_013261.5(PPARGC1A):c.1376G>A (p.Arg459Gln)	PPARGC1A (R332Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217017	NM_013261.5(PPARGC1A):c.1345A>G (p.Thr449Ala)	PPARGC1A (T437A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not provided	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)	not specified	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)	not provided	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 3217016	NM_013261.5(PPARGC1A):c.1135C>T (p.Arg379Trp)	PPARGC1A (R367W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309077	NM_013261.5(PPARGC1A):c.1124G>C (p.Arg375Pro)	PPARGC1A (R380P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217015	NM_013261.5(PPARGC1A):c.1087G>T (p.Val363Phe)	PPARGC1A (V363F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540349	NM_013261.5(PPARGC1A):c.1059G>C (p.Glu353Asp)	PPARGC1A (E358D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3309080	NM_013261.5(PPARGC1A):c.821C>G (p.Pro274Arg)	PPARGC1A (P262R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3034797	NM_013261.5(PPARGC1A):c.803+8T>C	PPARGC1A	Single nucleotide variant (intron variant)	PPARGC1A-related disorder	GLikely benign
Select item 3060360	NM_013261.5(PPARGC1A):c.758-7dup	PPARGC1A	Duplication (intron variant)	PPARGC1A-related disorder	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 disorder	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 3217022	NM_013261.5(PPARGC1A):c.592C>G (p.Gln198Glu)	PPARGC1A (Q71E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276810	NM_013261.5(PPARGC1A):c.545T>C (p.Ile182Thr)	PPARGC1A (I182T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 713303	NM_013261.5(PPARGC1A):c.390C>T (p.Asp130=)	PPARGC1A	Single nucleotide variant (synonymous variant +1 more)	not provided	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)	not specified	GUncertain significance
Select item 3043355	NM_013261.5(PPARGC1A):c.333G>T (p.Ala111=)	PPARGC1A	Single nucleotide variant (synonymous variant +2 more)	PPARGC1A-related disorder	GLikely benign
Select item 3044920	NM_013261.5(PPARGC1A):c.234+53G>A	PPARGC1A (R96Q)	Single nucleotide variant (missense variant +1 more)	PPARGC1A-related disorder	GBenign
Select item 2288456	NM_013261.5(PPARGC1A):c.190A>G (p.Ile64Val)	PPARGC1A (I52V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	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 disorder	GUncertain significance
Select item 2252272	NM_013261.5(PPARGC1A):c.7T>A (p.Trp3Arg)	PPARGC1A (W3R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3052687	NM_001330751.2(PPARGC1A):c.48T>A (p.Leu16=)	PPARGC1A	Single nucleotide variant (synonymous variant +2 more)	PPARGC1A-related disorder	GLikely benign
Select item 394001	GRCh37/hg19 4p15.2(chr4:23458442-23830175)x3	PPARGC1A	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 61