PPARD[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 2411595	NM_006238.5(PPARD):c.34C>T (p.Arg12Trp)	PPARD (R12W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476949	NM_006238.5(PPARD):c.61G>C (p.Ala21Pro)	PPARD (A21P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535787	NM_006238.5(PPARD):c.119G>A (p.Ser40Asn)	PPARD (S40N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217011	NM_006238.5(PPARD):c.196T>G (p.Ser66Ala)	PPARD (S27A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372812	NM_006238.5(PPARD):c.202G>A (p.Gly68Ser)	PPARD (G29S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408183	NM_006238.5(PPARD):c.232G>A (p.Gly78Arg)	PPARD (G39R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217012	NM_006238.5(PPARD):c.308G>A (p.Arg103His)	PPARD (R103H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407595	NM_006238.5(PPARD):c.473C>T (p.Ala158Val)	PPARD (A119V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314009	NM_006238.5(PPARD):c.507C>A (p.Asn169Lys)	PPARD (N169K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258507	NM_006238.5(PPARD):c.574A>G (p.Met192Val)	PPARD (M153V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307283	NM_006238.5(PPARD):c.623C>G (p.Thr208Arg)	PPARD (T110R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217013	NM_006238.5(PPARD):c.643G>A (p.Asp215Asn)	PPARD (D117N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259696	NM_006238.5(PPARD):c.889A>G (p.Ile297Val)	PPARD (I199V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386483	NM_006238.5(PPARD):c.892G>A (p.Val298Ile)	PPARD (V298I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266822	NM_006238.5(PPARD):c.953G>A (p.Arg318His)	PPARD (R279H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301986	NM_006238.5(PPARD):c.1099G>A (p.Val367Ile)	PPARD (V367I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382153	NM_006238.5(PPARD):c.1126A>T (p.Thr376Ser)	PPARD (T278S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288334	NM_006238.5(PPARD):c.1234G>A (p.Glu412Lys)	PPARD (E314K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348461	NM_006238.5(PPARD):c.1283C>T (p.Ser428Leu)	PPARD (S389L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ANKS1A, FKBP5 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 563171	GRCh37/hg19 6p21.31-21.2(chr6:34683518-36905281)x3	UHRF1BP1, SRSF3 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 226170	GRCh37/hg19 6p21.31(chr6:35285720-35434273)	DEF6, FANCE +1 more	Copy number gain	Abnormal esophagus morphology	GLikely benign

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Items: 28