ClinVar for Gene (Select 80339) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3421694	NM_025225.3(PNPLA3):c.740G>C (p.Arg247Thr)	PNPLA3 (R247T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421693	NM_025225.3(PNPLA3):c.839A>T (p.Asn280Ile)	PNPLA3 (N280I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421692	NM_025225.3(PNPLA3):c.1060G>A (p.Val354Ile)	PNPLA3 (V354I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421691	NM_025225.3(PNPLA3):c.95A>G (p.His32Arg)	PNPLA3 (H32R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3421690	NM_025225.3(PNPLA3):c.176G>C (p.Gly59Ala)	PNPLA3 (G59A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421688	NM_025225.3(PNPLA3):c.973G>A (p.Ala325Thr)	PNPLA3 (A325T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3421687	NM_025225.3(PNPLA3):c.220C>T (p.Arg74Trp)	PNPLA3 (R74W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421686	NM_025225.3(PNPLA3):c.145G>T (p.Gly49Trp)	PNPLA3 (G49W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421685	NM_025225.3(PNPLA3):c.1334C>T (p.Thr445Ile)	PNPLA3 (T445I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421684	NM_025225.3(PNPLA3):c.334G>A (p.Gly112Ser)	PNPLA3 (G112S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421683	NM_025225.3(PNPLA3):c.1264G>C (p.Glu422Gln)	LOC121627950, PNPLA3 (E422Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421682	NM_025225.3(PNPLA3):c.148G>A (p.Ala50Thr)	PNPLA3 (A50T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421681	NM_025225.3(PNPLA3):c.344G>A (p.Gly115Asp)	PNPLA3 (G115D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3391942	GRCh37/hg19 22q13.2-13.33(chr22:43451317-50307583)x1	ALG12, ARHGAP8 +44 more	Copy number loss	not provided	GPathogenic
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 3308175	NM_025225.3(PNPLA3):c.74C>A (p.Ala25Glu)	PNPLA3 (A25E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308174	NM_025225.3(PNPLA3):c.1396G>T (p.Ala466Ser)	PNPLA3 (A466S)	Single nucleotide variant (missense variant)	not specified	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 3308172	NM_025225.3(PNPLA3):c.119C>T (p.Ala40Val)	PNPLA3 (A40V)	Single nucleotide variant (missense variant)	not specified	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 3308170	NM_025225.3(PNPLA3):c.62A>G (p.Tyr21Cys)	PNPLA3 (Y21C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3216048	NM_025225.3(PNPLA3):c.1339C>T (p.Arg447Trp)	PNPLA3 (R447W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216047	NM_025225.3(PNPLA3):c.1250C>T (p.Ser417Phe)	LOC121627950, PNPLA3 (S417F)	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 3216045	NM_025225.3(PNPLA3):c.106C>A (p.Leu36Ile)	PNPLA3 (L36I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2653273	NM_025225.3(PNPLA3):c.372G>C (p.Gly124=)	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 2653271	NM_025225.3(PNPLA3):c.27C>T (p.Ser9=)	PNPLA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2590886	NM_025225.3(PNPLA3):c.1379A>G (p.Asn460Ser)	PNPLA3 (N460S)	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 2478927	NM_025225.3(PNPLA3):c.953A>T (p.Asp318Val)	PNPLA3 (D318V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2406498	NM_025225.3(PNPLA3):c.1144G>A (p.Asp382Asn)	PNPLA3 (D382N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2387937	NM_025225.3(PNPLA3):c.598A>G (p.Thr200Ala)	PNPLA3 (T200A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2373435	NM_025225.3(PNPLA3):c.517G>A (p.Val173Ile)	PNPLA3 (V173I)	Single nucleotide variant (missense variant)	not specified	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 2355861	NM_025225.3(PNPLA3):c.284G>A (p.Arg95Gln)	PNPLA3 (R95Q)	Single nucleotide variant (missense variant)	not specified	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 2322953	NM_025225.3(PNPLA3):c.16C>G (p.Arg6Gly)	PNPLA3 (R6G)	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 2289273	NM_025225.3(PNPLA3):c.214C>G (p.Leu72Val)	PNPLA3 (L72V)	Single nucleotide variant (missense variant)	not specified	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 2252271	NM_025225.3(PNPLA3):c.180C>G (p.Ile60Met)	PNPLA3 (I60M)	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 2219261	NM_025225.3(PNPLA3):c.124A>G (p.Met42Val)	PNPLA3 (M42V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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	ARFGAP3, ARHGAP8 +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 976870	NC_000022.11:g.43802117_50806121del	LOC126863169, LOC130067753 +443 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976862	NC_000022.11:g.43032129_50739836del	EFCAB6-DT, LOC130067654 +471 more	Deletion	Phelan-McDermid syndrome	GPathogenic
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)	NAFLD1 +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)	NAFLD1 +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)	NAFLD1 +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)	NAFLD1 +1 more	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 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)	NAFLD1 +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

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