PNPLA3[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 59061	GRCh38/hg38 22q13.31(chr22:43841416-44192863)x3	LOC114004363, LOC121627950 +27 more	Copy number gain	See cases	GUncertain significance
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 900686	NM_025225.2(PNPLA3):c.-180C>T	PNPLA3	Single nucleotide variant	NAFLD1	GUncertain significance
Select item 341921	NM_025225.2(PNPLA3):c.-168C>A	PNPLA3	Single nucleotide variant	NAFLD1 +1 more	GLikely benign
Select item 900687	NM_025225.2(PNPLA3):c.-131C>G	PNPLA3	Single nucleotide variant	NAFLD1	GUncertain significance
Select item 341922	NM_025225.2(PNPLA3):c.-112A>T	PNPLA3	Single nucleotide variant	NAFLD1 +1 more	GLikely benign
Select item 341923	NM_025225.2(PNPLA3):c.-111G>A	PNPLA3	Single nucleotide variant	NAFLD1 +1 more	GLikely benign
Select item 900688	NM_025225.2(PNPLA3):c.-108T>C	PNPLA3	Single nucleotide variant	NAFLD1	GUncertain significance
Select item 900689	NM_025225.3(PNPLA3):c.-69T>C	PNPLA3	Single nucleotide variant (5 prime UTR variant)	NAFLD1	GUncertain significance
Select item 341924	NM_025225.3(PNPLA3):c.-44C>G	PNPLA3	Single nucleotide variant (5 prime UTR variant)	NAFLD1	GUncertain significance
Select item 341925	NM_025225.3(PNPLA3):c.-40C>G	PNPLA3	Single nucleotide variant (5 prime UTR variant)	NAFLD1 +1 more	GLikely benign
Select item 3308176	NM_025225.3(PNPLA3):c.10G>A (p.Ala4Thr)	PNPLA3 (A4T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322953	NM_025225.3(PNPLA3):c.16C>G (p.Arg6Gly)	PNPLA3 (R6G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653271	NM_025225.3(PNPLA3):c.27C>T (p.Ser9=)	PNPLA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653272	NM_025225.3(PNPLA3):c.51C>T (p.Phe17=)	PNPLA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3308170	NM_025225.3(PNPLA3):c.62A>G (p.Tyr21Cys)	PNPLA3 (Y21C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 631896	NM_025225.3(PNPLA3):c.64del (p.His22fs)	PNPLA3 (H22fs)	Deletion (frameshift variant)	NAFLD1 +1 more	GUncertain significance
Select item 3308175	NM_025225.3(PNPLA3):c.74C>A (p.Ala25Glu)	PNPLA3 (A25E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238150	NM_025225.3(PNPLA3):c.79C>G (p.Arg27Gly)	PNPLA3 (R27G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 902366	NM_025225.3(PNPLA3):c.82T>C (p.Cys28Arg)	PNPLA3 (C28R)	Single nucleotide variant (missense variant)	NAFLD1	GUncertain significance
Select item 3308173	NM_025225.3(PNPLA3):c.89G>A (p.Ser30Asn)	PNPLA3 (S30N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216045	NM_025225.3(PNPLA3):c.106C>A (p.Leu36Ile)	PNPLA3 (L36I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216046	NM_025225.3(PNPLA3):c.115G>T (p.Asp39Tyr)	PNPLA3 (D39Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308172	NM_025225.3(PNPLA3):c.119C>T (p.Ala40Val)	PNPLA3 (A40V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219261	NM_025225.3(PNPLA3):c.124A>G (p.Met42Val)	PNPLA3 (M42V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319362	NM_025225.3(PNPLA3):c.125T>G (p.Met42Arg)	PNPLA3 (M42R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545914	NM_025225.3(PNPLA3):c.129G>T (p.Leu43Phe)	PNPLA3 (L43F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3216049	NM_025225.3(PNPLA3):c.136G>T (p.Ala46Ser)	PNPLA3 (A46S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619470	NM_025225.3(PNPLA3):c.152T>C (p.Leu51Ser)	PNPLA3 (L51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252271	NM_025225.3(PNPLA3):c.180C>G (p.Ile60Met)	PNPLA3 (I60M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 341926	NM_025225.3(PNPLA3):c.187+12G>A	PNPLA3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2289273	NM_025225.3(PNPLA3):c.214C>G (p.Leu72Val)	PNPLA3 (L72V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 341927	NM_025225.3(PNPLA3):c.216T>C (p.Leu72=)	PNPLA3	Single nucleotide variant (synonymous variant)	NAFLD1	GLikely benign
Select item 2365898	NM_025225.3(PNPLA3):c.221G>A (p.Arg74Gln)	PNPLA3 (R74Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 902367	NM_025225.3(PNPLA3):c.226G>A (p.Ala76Thr)	PNPLA3 (A76T)	Single nucleotide variant (missense variant)	NAFLD1	GUncertain significance
Select item 902368	NM_025225.3(PNPLA3):c.235C>T (p.Arg79Trp)	PNPLA3 (R79W)	Single nucleotide variant (missense variant)	NAFLD1	GUncertain significance
Select item 902369	NM_025225.3(PNPLA3):c.236G>A (p.Arg79Gln)	PNPLA3 (R79Q)	Single nucleotide variant (missense variant)	NAFLD1	GUncertain significance
Select item 902370	NM_025225.3(PNPLA3):c.249C>T (p.Ile83=)	PNPLA3	Single nucleotide variant (synonymous variant)	NAFLD1	GLikely benign
Select item 631897	NM_025225.3(PNPLA3):c.283C>T (p.Arg95Ter)	PNPLA3 (R95*)	Single nucleotide variant (nonsense)	NAFLD1	GUncertain significance
Select item 2355861	NM_025225.3(PNPLA3):c.284G>A (p.Arg95Gln)	PNPLA3 (R95Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 903230	NM_025225.3(PNPLA3):c.295T>C (p.Cys99Arg)	PNPLA3 (C99R)	Single nucleotide variant (missense variant)	NAFLD1	GUncertain significance
Select item 341928	NM_025225.3(PNPLA3):c.295T>G (p.Cys99Gly)	PNPLA3 (C99G)	Single nucleotide variant (missense variant)	NAFLD1 +1 more	GBenign
Select item 2397549	NM_025225.3(PNPLA3):c.302G>A (p.Cys101Tyr)	PNPLA3 (C101Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 341929	NM_025225.3(PNPLA3):c.309G>A (p.Pro103=)	PNPLA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 341930	NM_025225.3(PNPLA3):c.343G>T (p.Gly115Cys)	PNPLA3 (G115C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2653273	NM_025225.3(PNPLA3):c.372G>C (p.Gly124=)	PNPLA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2457810	NM_025225.3(PNPLA3):c.397C>T (p.Arg133Trp)	PNPLA3 (R133W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 903231	NM_025225.3(PNPLA3):c.406G>C (p.Asp136His)	PNPLA3 (D136H)	Single nucleotide variant (missense variant)	NAFLD1 +1 more	GUncertain significance
Select item 341931	NM_025225.3(PNPLA3):c.414C>T (p.Val138=)	PNPLA3	Single nucleotide variant (synonymous variant)	NAFLD1	GUncertain significance
Select item 341932	NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met)	PNPLA3 (I148M)	Single nucleotide variant (missense variant)	Hepatic steatosis +2 more	GConflicting classifications of pathogenicity; risk factor
Select item 341933	NM_025225.3(PNPLA3):c.447C>T (p.Pro149=)	PNPLA3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 899623	NM_025225.3(PNPLA3):c.484G>A (p.Val162Met)	PNPLA3 (V162M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 899624	NM_025225.3(PNPLA3):c.494T>C (p.Val165Ala)	PNPLA3 (V165A)	Single nucleotide variant (missense variant)	NAFLD1	GUncertain significance
Select item 3308171	NM_025225.3(PNPLA3):c.497A>T (p.Asp166Val)	PNPLA3 (D166V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373435	NM_025225.3(PNPLA3):c.517G>A (p.Val173Ile)	PNPLA3 (V173I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2205093	NM_025225.3(PNPLA3):c.556C>T (p.Pro186Ser)	PNPLA3 (P186S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 899625	NM_025225.3(PNPLA3):c.557C>A (p.Pro186His)	PNPLA3 (P186H)	Single nucleotide variant (missense variant)	NAFLD1 +1 more	GUncertain significance
Select item 341934	NM_025225.3(PNPLA3):c.561C>T (p.Phe187=)	PNPLA3	Single nucleotide variant (synonymous variant)	NAFLD1 +1 more	GBenign
Select item 2387937	NM_025225.3(PNPLA3):c.598A>G (p.Thr200Ala)	PNPLA3 (T200A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 899626	NM_025225.3(PNPLA3):c.599C>T (p.Thr200Met)	PNPLA3 (T200M)	Single nucleotide variant (missense variant)	NAFLD1	GUncertain significance
Select item 899627	NM_025225.3(PNPLA3):c.617A>C (p.Asp206Ala)	PNPLA3 (D206A)	Single nucleotide variant (missense variant)	NAFLD1	GUncertain significance
Select item 341935	NM_025225.3(PNPLA3):c.646A>C (p.Thr216Pro)	PNPLA3 (T216P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 341936	NM_025225.3(PNPLA3):c.659A>G (p.Tyr220Cys)	PNPLA3 (Y220C)	Single nucleotide variant (missense variant)	NAFLD1 +1 more	GLikely benign
Select item 777731	NM_025225.3(PNPLA3):c.679G>A (p.Val227Ile)	PNPLA3 (V227I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2374985	NM_025225.3(PNPLA3):c.686C>T (p.Pro229Leu)	PNPLA3 (P229L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 900756	NM_025225.3(PNPLA3):c.696+12G>A	PNPLA3	Single nucleotide variant (intron variant)	NAFLD1	GUncertain significance
Select item 900757	NM_025225.3(PNPLA3):c.697-5C>A	PNPLA3	Single nucleotide variant (intron variant)	NAFLD1	GUncertain significance
Select item 900758	NM_025225.3(PNPLA3):c.697-4A>T	PNPLA3	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 900759	NM_025225.3(PNPLA3):c.711A>G (p.Ile237Met)	PNPLA3 (I237M)	Single nucleotide variant (missense variant)	NAFLD1 +1 more	GUncertain significance
Select item 2253944	NM_025225.3(PNPLA3):c.749A>G (p.Glu250Gly)	PNPLA3 (E250G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710167	NM_025225.3(PNPLA3):c.801A>C (p.Glu267Asp)	PNPLA3 (E267D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 900760	NM_025225.3(PNPLA3):c.862G>A (p.Glu288Lys)	PNPLA3 (E288K)	Single nucleotide variant (missense variant)	NAFLD1	GLikely benign
Select item 546922	NM_025225.3(PNPLA3):c.885G>T (p.Arg295Ser)	PNPLA3 (R295S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 900761	NM_025225.3(PNPLA3):c.917G>A (p.Arg306His)	PNPLA3 (R306H)	Single nucleotide variant (missense variant)	NAFLD1	GUncertain significance
Select item 2329102	NM_025225.3(PNPLA3):c.929T>G (p.Leu310Arg)	PNPLA3 (L310R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 900762	NM_025225.3(PNPLA3):c.950T>A (p.Leu317Gln)	PNPLA3 (L317Q)	Single nucleotide variant (missense variant)	NAFLD1	GUncertain significance
Select item 2478927	NM_025225.3(PNPLA3):c.953A>T (p.Asp318Val)	PNPLA3 (D318V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 341937	NM_025225.3(PNPLA3):c.972C>T (p.Leu324=)	PNPLA3	Single nucleotide variant (synonymous variant)	NAFLD1 +1 more	GBenign/Likely benign
Select item 341938	NM_025225.3(PNPLA3):c.980-15A>C	PNPLA3	Single nucleotide variant (intron variant)	NAFLD1	GLikely benign
Select item 341939	NM_025225.3(PNPLA3):c.980-14A>C	PNPLA3	Single nucleotide variant (intron variant)	NAFLD1	GUncertain significance
Select item 341940	NM_025225.3(PNPLA3):c.992A>G (p.Glu331Gly)	PNPLA3 (E331G)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign

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