PNPLA5[gene] - ClinVar

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Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC112695092, LOC112695093 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067848, LOC130067849 +687 more	Copy number gain	See cases	GPathogenic
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	LOC130067673, LOC130067674 +580 more	Copy number loss	See cases	GPathogenic
Select item 154688	GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	SERHL2, SHANK3 +541 more	Copy number gain	See cases	GPathogenic
Select item 146215	GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4	A4GALT, ARFGAP3 +303 more	Copy number gain	See cases	GPathogenic
Select item 153178	GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3	LOC130067881, LOC130067882 +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	LOC130067875, LOC130067876 +502 more	Copy number gain	See cases	GPathogenic
Select item 57945	GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3	LOC132090656, LOC132090657 +495 more	Copy number gain	See cases	GPathogenic
Select item 148050	GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3	LOC130067636, LOC130067637 +492 more	Copy number gain	See cases	GPathogenic
Select item 57669	GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1	ACR, ADM2 +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	LOC126863178, LOC126863179 +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	SBF1, SCO2 +441 more	Copy number loss	See cases	GPathogenic
Select item 59061	GRCh38/hg38 22q13.31(chr22:43841416-44192863)x3	LOC114004363, LOC121627950 +27 more	Copy number gain	See cases	GUncertain significance
Select item 2372951	NM_138814.4(PNPLA5):c.1205C>T (p.Pro402Leu)	PNPLA5 (P262L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2226245	NM_138814.4(PNPLA5):c.1187T>A (p.Leu396His)	PNPLA5 (L282H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289214	NM_138814.4(PNPLA5):c.1177G>A (p.Ala393Thr)	PNPLA5 (A279T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622696	NM_138814.4(PNPLA5):c.1102G>A (p.Asp368Asn)	PNPLA5 (D254N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231682	NM_138814.4(PNPLA5):c.1088T>G (p.Val363Gly)	PNPLA5 (V249G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046235	NM_138814.4(PNPLA5):c.1083-5T>A	PNPLA5	Single nucleotide variant (intron variant)	PNPLA5-related condition	GLikely benign
Select item 2596390	NM_138814.4(PNPLA5):c.1060T>G (p.Tyr354Asp)	PNPLA5 (Y354D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490603	NM_138814.4(PNPLA5):c.964T>C (p.Cys322Arg)	PNPLA5 (C322R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3035582	NM_138814.4(PNPLA5):c.949+6G>T	PNPLA5	Single nucleotide variant (intron variant)	PNPLA5-related condition	GBenign
Select item 2559831	NM_138814.4(PNPLA5):c.862G>C (p.Gly288Arg)	PNPLA5 (G174R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3060401	NM_138814.4(PNPLA5):c.856T>C (p.Trp286Arg)	PNPLA5 (W146R +2 more)	Single nucleotide variant (missense variant)	PNPLA5-related condition	GBenign
Select item 3039719	NM_138814.4(PNPLA5):c.852A>G (p.Gln284=)	PNPLA5	Single nucleotide variant (synonymous variant)	PNPLA5-related condition	GBenign
Select item 3059962	NM_138814.4(PNPLA5):c.825C>T (p.Asp275=)	PNPLA5	Single nucleotide variant (synonymous variant)	PNPLA5-related condition	GBenign
Select item 2340388	NM_138814.4(PNPLA5):c.815C>T (p.Ala272Val)	PNPLA5 (A132V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283219	NM_138814.4(PNPLA5):c.811C>T (p.Pro271Ser)	PNPLA5 (P131S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395595	NM_138814.4(PNPLA5):c.796G>T (p.Val266Leu)	PNPLA5 (V266L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382720	NM_138814.4(PNPLA5):c.700G>A (p.Glu234Lys)	PNPLA5 (E120K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460474	NM_138814.4(PNPLA5):c.692C>T (p.Pro231Leu)	PNPLA5 (P117L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038114	NM_138814.4(PNPLA5):c.653C>T (p.Thr218Ile)	PNPLA5 (T104I +2 more)	Single nucleotide variant (missense variant)	PNPLA5-related condition	GBenign
Select item 3037987	NM_138814.4(PNPLA5):c.639C>T (p.Ser213=)	PNPLA5	Single nucleotide variant (synonymous variant)	PNPLA5-related condition	GBenign
Select item 3037896	NM_138814.4(PNPLA5):c.599C>T (p.Thr200Ile)	PNPLA5 (T200I +2 more)	Single nucleotide variant (missense variant)	PNPLA5-related condition	GBenign
Select item 3056388	NM_138814.4(PNPLA5):c.493-10C>T	PNPLA5	Single nucleotide variant (intron variant)	PNPLA5-related condition	GBenign
Select item 3039362	NM_138814.4(PNPLA5):c.478G>A (p.Glu160Lys)	PNPLA5 (E160K +1 more)	Single nucleotide variant (missense variant +1 more)	PNPLA5-related condition	GBenign
Select item 2411407	NM_138814.4(PNPLA5):c.470T>G (p.Ile157Ser)	PNPLA5 (D31E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492815	NM_138814.4(PNPLA5):c.431T>C (p.Leu144Ser)	PNPLA5 (L144S)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3059437	NM_138814.4(PNPLA5):c.418C>T (p.Leu140Phe)	PNPLA5 (L140F)	Single nucleotide variant (5 prime UTR variant +2 more)	PNPLA5-related condition	GBenign
Select item 2570038	NM_138814.4(PNPLA5):c.349G>A (p.Gly117Ser)	PNPLA5 (G117S)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2588560	NM_138814.4(PNPLA5):c.319G>A (p.Asp107Asn)	PNPLA5 (D107N)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3059900	NM_138814.4(PNPLA5):c.306T>C (p.Asp102=)	PNPLA5	Single nucleotide variant (5 prime UTR variant +2 more)	PNPLA5-related condition	GBenign
Select item 2276521	NM_138814.4(PNPLA5):c.292C>A (p.Gln98Lys)	PNPLA5 (Q98K)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2267597	NM_138814.4(PNPLA5):c.271G>C (p.Ala91Pro)	PNPLA5 (A91P)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2295274	NM_138814.4(PNPLA5):c.140G>A (p.Gly47Asp)	PNPLA5 (G47D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3060543	NM_138814.4(PNPLA5):c.132C>T (p.Arg44=)	PNPLA5	Single nucleotide variant (synonymous variant +1 more)	PNPLA5-related condition	GBenign
Select item 2511437	NM_138814.4(PNPLA5):c.107C>T (p.Pro36Leu)	PNPLA5 (P36L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484534	NM_138814.4(PNPLA5):c.92T>C (p.Leu31Pro)	PNPLA5 (L31P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2314745	NM_138814.4(PNPLA5):c.83C>G (p.Thr28Ser)	PNPLA5 (T28S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3033575	NM_138814.4(PNPLA5):c.75G>A (p.Val25=)	PNPLA5	Single nucleotide variant (synonymous variant +1 more)	PNPLA5-related condition	GBenign
Select item 3050256	NM_138814.4(PNPLA5):c.72C>T (p.His24=)	PNPLA5	Single nucleotide variant (synonymous variant +1 more)	PNPLA5-related condition	GLikely benign
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 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	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 2672923	GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1	ACR, ADM2 +71 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 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 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	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 565008	GRCh37/hg19 22q13.2-13.31(chr22:44023172-44744568)x3	PNPLA5, EFCAB6 +6 more	Copy number gain	not provided	GUncertain significance
Select item 443581	GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1	A4GALT, ACR +79 more	Copy number loss	See cases	GPathogenic
Select item 442593	GRCh37/hg19 22q13.2-13.33(chr22:43875989-51197838)x1	ACR, ADM2 +70 more	Copy number loss	See cases	GPathogenic
Select item 441707	GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1	ACR, ADM2 +77 more	Copy number loss	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	A4GALT, ACO2 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	C22orf15, C22orf23 +435 more	Copy number gain	See cases	GPathogenic
Select item 441574	GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1	A4GALT, ACR +91 more	Copy number loss	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	SLC5A1, SLC5A4 +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 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

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Items: 89