ClinVar for MedGen (Select 413307) - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1677281	NM_001349232.2(ATG7):c.1277C>T (p.Pro426Leu)	ATG7 (P115L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1677280	NM_001349232.2(ATG7):c.1412T>C (p.Val471Ala)	ATG7 (V160A +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive 31	GConflicting classifications of pathogenicity
Select item 903292	NM_025225.3(PNPLA3):c.1338G>A (p.Pro446=)	PNPLA3	Single nucleotide variant (synonymous variant)	NAFLD1	GUncertain significance
Select item 903291	NM_025225.3(PNPLA3):c.1337C>T (p.Pro446Leu)	PNPLA3 (P446L)	Single nucleotide variant (missense variant)	NAFLD1	GUncertain significance
Select item 903231	NM_025225.3(PNPLA3):c.406G>C (p.Asp136His)	PNPLA3 (D136H)	Single nucleotide variant (missense variant)	not specified +1 more	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 902513	NM_025225.3(PNPLA3):c.*918G>A	PNPLA3	Single nucleotide variant (3 prime UTR variant)	NAFLD1	GUncertain significance
Select item 902436	NM_025225.3(PNPLA3):c.1262C>T (p.Pro421Leu)	LOC121627950, PNPLA3 (P421L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 902435	NM_025225.3(PNPLA3):c.1112+13G>T	PNPLA3	Single nucleotide variant (intron variant)	NAFLD1	GUncertain significance
Select item 902434	NM_025225.3(PNPLA3):c.1091C>G (p.Ser364Cys)	PNPLA3 (S364C)	Single nucleotide variant (missense variant)	not specified +1 more	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 902369	NM_025225.3(PNPLA3):c.236G>A (p.Arg79Gln)	PNPLA3 (R79Q)	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 902367	NM_025225.3(PNPLA3):c.226G>A (p.Ala76Thr)	PNPLA3 (A76T)	Single nucleotide variant (missense variant)	NAFLD1	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 900837	NM_025225.3(PNPLA3):c.*812A>G	PNPLA3	Single nucleotide variant (3 prime UTR variant)	NAFLD1	GUncertain significance
Select item 900836	NM_025225.3(PNPLA3):c.*760T>C	PNPLA3	Single nucleotide variant (3 prime UTR variant)	NAFLD1	GUncertain significance
Select item 900835	NM_025225.3(PNPLA3):c.*448C>T	PNPLA3	Single nucleotide variant (3 prime UTR variant)	NAFLD1	GUncertain significance
Select item 900834	NM_025225.3(PNPLA3):c.*393G>C	PNPLA3	Single nucleotide variant (3 prime UTR variant)	NAFLD1	GBenign
Select item 900762	NM_025225.3(PNPLA3):c.950T>A (p.Leu317Gln)	PNPLA3 (L317Q)	Single nucleotide variant (missense variant)	NAFLD1	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 900760	NM_025225.3(PNPLA3):c.862G>A (p.Glu288Lys)	PNPLA3 (E288K)	Single nucleotide variant (missense variant)	NAFLD1	GLikely benign
Select item 900759	NM_025225.3(PNPLA3):c.711A>G (p.Ile237Met)	PNPLA3 (I237M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 900758	NM_025225.3(PNPLA3):c.697-4A>T	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 900756	NM_025225.3(PNPLA3):c.696+12G>A	PNPLA3	Single nucleotide variant (intron 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 900688	NM_025225.2(PNPLA3):c.-108T>C	PNPLA3	Single nucleotide variant	NAFLD1	GUncertain significance
Select item 900687	NM_025225.2(PNPLA3):c.-131C>G	PNPLA3	Single nucleotide variant	NAFLD1	GUncertain significance
Select item 900686	NM_025225.2(PNPLA3):c.-180C>T	PNPLA3	Single nucleotide variant	NAFLD1	GUncertain significance
Select item 899693	NM_025225.3(PNPLA3):c.*346G>A	PNPLA3	Single nucleotide variant (3 prime UTR variant)	NAFLD1	GUncertain significance
Select item 899692	NM_025225.3(PNPLA3):c.*275C>T	PNPLA3	Single nucleotide variant (3 prime UTR variant)	NAFLD1	GLikely benign
Select item 899691	NM_025225.3(PNPLA3):c.*222G>A	PNPLA3	Single nucleotide variant (3 prime UTR variant)	NAFLD1	GUncertain significance
Select item 899690	NM_025225.3(PNPLA3):c.*176G>A	PNPLA3	Single nucleotide variant (3 prime UTR 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 899626	NM_025225.3(PNPLA3):c.599C>T (p.Thr200Met)	PNPLA3 (T200M)	Single nucleotide variant (missense variant)	NAFLD1	GUncertain significance
Select item 899625	NM_025225.3(PNPLA3):c.557C>A (p.Pro186His)	PNPLA3 (P186H)	Single nucleotide variant (missense variant)	not specified +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 899623	NM_025225.3(PNPLA3):c.484G>A (p.Val162Met)	PNPLA3 (V162M)	Single nucleotide variant (missense variant)	NAFLD1	GUncertain significance
Select item 631898	NM_025225.3(PNPLA3):c.1186C>T (p.Arg396Ter)	PNPLA3 (R396*)	Single nucleotide variant (nonsense)	NAFLD1	GUncertain significance
Select item 631897	NM_025225.3(PNPLA3):c.283C>T (p.Arg95Ter)	PNPLA3 (R95*)	Single nucleotide variant (nonsense)	NAFLD1	GUncertain significance
Select item 631896	NM_025225.3(PNPLA3):c.64del (p.His22fs)	PNPLA3 (H22fs)	Deletion (frameshift variant)	NAFLD1	GUncertain significance
Select item 341966	NM_025225.3(PNPLA3):c.*1175A>C	PNPLA3	Single nucleotide variant (3 prime UTR variant)	NAFLD1	GUncertain significance
Select item 341965	NM_025225.3(PNPLA3):c.*1090A>G	PNPLA3	Single nucleotide variant (3 prime UTR variant)	NAFLD1	GLikely benign
Select item 341964	NM_025225.3(PNPLA3):c.*1076C>T	PNPLA3	Single nucleotide variant (3 prime UTR variant)	NAFLD1	GUncertain significance
Select item 341963	NM_025225.3(PNPLA3):c.*1068C>T	PNPLA3	Single nucleotide variant (3 prime UTR variant)	NAFLD1	GUncertain significance
Select item 341962	NM_025225.3(PNPLA3):c.*990T>A	PNPLA3	Single nucleotide variant (3 prime UTR variant)	NAFLD1	GUncertain significance
Select item 341958	NM_025225.3(PNPLA3):c.*960T>G	PNPLA3	Single nucleotide variant (3 prime UTR variant)	NAFLD1	GUncertain significance
Select item 341957	NM_025225.3(PNPLA3):c.*889A>G	PNPLA3	Single nucleotide variant (3 prime UTR variant)	NAFLD1	GBenign
Select item 341956	NM_025225.3(PNPLA3):c.*747T>A	PNPLA3	Single nucleotide variant (3 prime UTR variant)	NAFLD1	GBenign
Select item 341955	NM_025225.3(PNPLA3):c.*707T>C	PNPLA3	Single nucleotide variant (3 prime UTR variant)	NAFLD1	GBenign
Select item 341953	NM_025225.3(PNPLA3):c.*626A>G	PNPLA3	Single nucleotide variant (3 prime UTR variant)	NAFLD1	GLikely benign
Select item 341952	NM_025225.3(PNPLA3):c.*429T>C	PNPLA3	Single nucleotide variant (3 prime UTR variant)	NAFLD1	GBenign
Select item 341951	NM_025225.3(PNPLA3):c.*141T>G	PNPLA3	Single nucleotide variant (3 prime UTR variant)	NAFLD1	GUncertain significance
Select item 341950	NM_025225.3(PNPLA3):c.*71T>G	PNPLA3	Single nucleotide variant (3 prime UTR variant)	NAFLD1	GUncertain significance
Select item 341949	NM_025225.3(PNPLA3):c.*63C>T	PNPLA3	Single nucleotide variant (3 prime UTR variant)	NAFLD1	GBenign
Select item 341948	NM_025225.3(PNPLA3):c.*19T>G	PNPLA3	Single nucleotide variant (3 prime UTR variant)	NAFLD1	GUncertain significance
Select item 341947	NM_025225.3(PNPLA3):c.1419C>T (p.Pro473=)	PNPLA3	Single nucleotide variant (synonymous variant)	NAFLD1	GUncertain significance
Select item 341946	NM_025225.3(PNPLA3):c.1359C>G (p.Ser453Arg)	PNPLA3 (S453R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 341945	NM_025225.3(PNPLA3):c.1358G>T (p.Ser453Ile)	PNPLA3 (S453I)	Single nucleotide variant (missense variant)	NAFLD1	GLikely benign
Select item 341944	NM_025225.3(PNPLA3):c.1340G>A (p.Arg447Gln)	PNPLA3 (R447Q)	Single nucleotide variant (missense variant)	NAFLD1	GUncertain significance
Select item 341943	NM_025225.3(PNPLA3):c.1300A>G (p.Lys434Glu)	PNPLA3 (K434E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 341942	NM_025225.3(PNPLA3):c.1209C>T (p.Pro403=)	PNPLA3	Single nucleotide variant (synonymous variant)	NAFLD1	GUncertain significance
Select item 341941	NM_025225.3(PNPLA3):c.1112+14G>A	PNPLA3	Single nucleotide variant (intron variant)	NAFLD1	GLikely benign
Select item 341940	NM_025225.3(PNPLA3):c.992A>G (p.Glu331Gly)	PNPLA3 (E331G)	Single nucleotide variant (missense 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 341938	NM_025225.3(PNPLA3):c.980-15A>C	PNPLA3	Single nucleotide variant (intron variant)	NAFLD1	GLikely benign
Select item 341937	NM_025225.3(PNPLA3):c.972C>T (p.Leu324=)	PNPLA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 341936	NM_025225.3(PNPLA3):c.659A>G (p.Tyr220Cys)	PNPLA3 (Y220C)	Single nucleotide variant (missense variant)	NAFLD1	GLikely benign
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 341934	NM_025225.3(PNPLA3):c.561C>T (p.Phe187=)	PNPLA3	Single nucleotide variant (synonymous variant)	NAFLD1	GBenign
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 341932	NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met)	PNPLA3 (I148M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity; risk factor
Select item 341931	NM_025225.3(PNPLA3):c.414C>T (p.Val138=)	PNPLA3	Single nucleotide variant (synonymous variant)	NAFLD1	GUncertain significance
Select item 341930	NM_025225.3(PNPLA3):c.343G>T (p.Gly115Cys)	PNPLA3 (G115C)	Single nucleotide variant (missense variant)	NAFLD1	GBenign
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 341928	NM_025225.3(PNPLA3):c.295T>G (p.Cys99Gly)	PNPLA3 (C99G)	Single nucleotide variant (missense variant)	NAFLD1	GBenign
Select item 341927	NM_025225.3(PNPLA3):c.216T>C (p.Leu72=)	PNPLA3	Single nucleotide variant (synonymous variant)	NAFLD1	GLikely benign
Select item 341926	NM_025225.3(PNPLA3):c.187+12G>A	PNPLA3	Single nucleotide variant (intron variant)	NAFLD1	GBenign
Select item 341925	NM_025225.3(PNPLA3):c.-40C>G	PNPLA3	Single nucleotide variant (5 prime UTR variant)	NAFLD1	GLikely benign
Select item 341924	NM_025225.3(PNPLA3):c.-44C>G	PNPLA3	Single nucleotide variant (5 prime UTR variant)	NAFLD1	GUncertain significance
Select item 341923	NM_025225.2(PNPLA3):c.-111G>A	PNPLA3	Single nucleotide variant	NAFLD1	GLikely benign
Select item 341922	NM_025225.2(PNPLA3):c.-112A>T	PNPLA3	Single nucleotide variant	NAFLD1	GLikely benign
Select item 341921	NM_025225.2(PNPLA3):c.-168C>A	PNPLA3	Single nucleotide variant	NAFLD1	GLikely benign

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Items: 84