ClinVar for Gene (Select 5340) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 433

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381018	NM_000301.5(PLG):c.763del (p.Glu255fs)	PLG (E255fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3307728	NM_000301.5(PLG):c.2066C>T (p.Pro689Leu)	PLG (P689L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307727	NM_000301.5(PLG):c.227T>C (p.Met76Thr)	PLG (M76T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307726	NM_000301.5(PLG):c.751A>C (p.Asn251His)	PLG (N251H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251530	NM_000301.5(PLG):c.1228C>A (p.Gln410Lys)	PLG (Q410K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246082	NC_000006.11:g.(?_161123337)_(161155140_?)dup	PLG	Duplication	not provided	GUncertain significance
Select item 3233501	NM_000301.5(PLG):c.2086C>A (p.Arg696=)	PLG	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3215222	NM_000301.5(PLG):c.829A>C (p.Lys277Gln)	PLG (K277Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215221	NM_000301.5(PLG):c.674C>G (p.Pro225Arg)	PLG (P225R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215219	NM_000301.5(PLG):c.1517C>T (p.Ala506Val)	PLG (A506V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 3063641	NM_000301.5(PLG):c.50-4C>G	PLG	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3058536	NM_000301.5(PLG):c.1869C>T (p.Cys623=)	LOC126859861, PLG	Single nucleotide variant (synonymous variant)	PLG-related disorder	GLikely benign
Select item 3057845	NM_000301.5(PLG):c.1439-8C>A	PLG	Single nucleotide variant (intron variant)	PLG-related disorder	GLikely benign
Select item 3049173	NM_000301.5(PLG):c.*7G>A	PLG	Single nucleotide variant (3 prime UTR variant)	PLG-related disorder	GLikely benign
Select item 3042511	NM_000301.5(PLG):c.1143T>C (p.Asp381=)	PLG	Single nucleotide variant (synonymous variant)	PLG-related disorder	GLikely benign
Select item 3041601	NM_000301.5(PLG):c.1377G>A (p.Ala459=)	PLG	Single nucleotide variant (synonymous variant)	PLG-related disorder	GLikely benign
Select item 3023306	NM_000301.5(PLG):c.857A>C (p.Asn286Thr)	PLG (N286T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021992	NM_000301.5(PLG):c.1550C>T (p.Thr517Ile)	PLG (T517I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021589	NM_000301.5(PLG):c.417T>C (p.Pro139=)	PLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017807	NM_000301.5(PLG):c.226A>T (p.Met76Leu)	PLG (M76L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017174	NM_000301.5(PLG):c.745G>T (p.Asp249Tyr)	PLG (D249Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015760	NM_000301.5(PLG):c.1656C>T (p.Tyr552=)	PLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013882	NM_000301.5(PLG):c.403C>T (p.Pro135Ser)	PLG (P135S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008851	NM_000301.5(PLG):c.292+17C>T	PLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007137	NM_000301.5(PLG):c.645C>A (p.His215Gln)	PLG (H215Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006242	NM_000301.5(PLG):c.1097-18C>G	PLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000820	NM_000301.5(PLG):c.1254T>C (p.Asn418=)	PLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999728	NM_000301.5(PLG):c.1584A>T (p.Lys528Asn)	PLG (K528N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996600	NM_000301.5(PLG):c.1200T>G (p.Ser400=)	PLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994405	NM_000301.5(PLG):c.1635G>A (p.Thr545=)	PLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994210	NM_000301.5(PLG):c.292+18C>T	PLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990600	NM_000301.5(PLG):c.1571C>A (p.Ala524Glu)	PLG (A524E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989963	NM_000301.5(PLG):c.1877+8T>C	LOC126859861, PLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989929	NM_000301.5(PLG):c.1987C>A (p.Arg663=)	PLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988133	NM_000301.5(PLG):c.422C>T (p.Thr141Ile)	PLG (T141I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985374	NM_000301.5(PLG):c.1557G>A (p.Glu519=)	PLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980729	NM_000301.5(PLG):c.1256+1G>A	PLG	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2980011	NM_000301.5(PLG):c.951-18_951-17del	PLG	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2979252	NM_000301.5(PLG):c.548-8C>T	PLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978027	NM_000301.5(PLG):c.1291G>A (p.Ala431Thr)	PLG (A431T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972618	NM_000301.5(PLG):c.1063T>C (p.Ser355Pro)	PLG (S355P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971393	NM_000301.5(PLG):c.56G>C (p.Gly19Ala)	PLG (G19A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970764	NM_000301.5(PLG):c.2333C>T (p.Thr778Ile)	PLG (T778I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969594	NM_000301.5(PLG):c.900T>C (p.Ser300=)	PLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969244	NM_000301.5(PLG):c.1048C>T (p.Pro350Ser)	PLG (P350S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969231	NM_000301.5(PLG):c.684C>T (p.Asn228=)	PLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968650	NM_000301.5(PLG):c.477G>A (p.Pro159=)	PLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967694	NM_000301.5(PLG):c.951-14C>A	PLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967690	NM_000301.5(PLG):c.165G>A (p.Glu55=)	PLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964829	NM_000301.5(PLG):c.477G>T (p.Pro159=)	PLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964696	NM_000301.5(PLG):c.1395G>A (p.Pro465=)	PLG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2964619	NM_000301.5(PLG):c.292+16TCC[5]	PLG	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2963129	NM_000301.5(PLG):c.668+15G>A	PLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962887	NM_000301.5(PLG):c.49+7C>G	PLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961360	NM_000301.5(PLG):c.2414G>A (p.Gly805Glu)	PLG (G805E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960871	NM_000301.5(PLG):c.1096+11G>C	PLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960748	NM_000301.5(PLG):c.1212G>A (p.Met404Ile)	PLG (M404I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2957955	NM_000301.5(PLG):c.1439-12T>A	PLG	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2912438	NM_000301.5(PLG):c.871G>A (p.Val291Met)	PLG (V291M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2903631	NM_000301.5(PLG):c.2024C>T (p.Ala675Val)	PLG (A675V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2899211	NM_000301.5(PLG):c.1290T>A (p.Asp430Glu)	PLG (D430E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2898025	NM_000301.5(PLG):c.493T>C (p.Tyr165His)	PLG (Y165H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896055	NM_000301.5(PLG):c.471C>T (p.Asn157=)	PLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894588	NM_000301.5(PLG):c.1748G>A (p.Gly583Glu)	PLG (G583E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893089	NM_000301.5(PLG):c.711C>T (p.Pro237=)	PLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890213	NM_000301.5(PLG):c.1434A>C (p.Glu478Asp)	PLG (E478D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889793	NM_000301.5(PLG):c.483G>T (p.Gly161=)	PLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888592	NM_000301.5(PLG):c.1385T>C (p.Val462Ala)	PLG (V462A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2888591	NM_000301.5(PLG):c.1071A>G (p.Val357=)	PLG	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2885143	NM_000301.5(PLG):c.2194T>C (p.Tyr732His)	PLG (Y732H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2882890	NM_000301.5(PLG):c.1482G>A (p.Ala494=)	PLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880402	NM_000301.5(PLG):c.724C>T (p.Arg242Trp)	PLG (R242W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873950	NM_000301.5(PLG):c.1439-19C>A	PLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873893	NM_000301.5(PLG):c.426C>G (p.His142Gln)	PLG (H142Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873309	NM_000301.5(PLG):c.624C>T (p.Ala208=)	PLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872807	NM_000301.5(PLG):c.1256C>T (p.Ala419Val)	PLG (A419V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872482	NM_000301.5(PLG):c.118C>A (p.Gln40Lys)	PLG (Q40K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870045	NM_000301.5(PLG):c.1661A>G (p.Tyr554Cys)	PLG (Y554C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866521	NM_000301.5(PLG):c.357A>T (p.Lys119Asn)	PLG (K119N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2857771	NM_000301.5(PLG):c.2304G>A (p.Glu768=)	PLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855703	NM_000301.5(PLG):c.991A>G (p.Arg331Gly)	PLG (R331G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2852132	NM_000301.5(PLG):c.740C>G (p.Thr247Ser)	PLG (T247S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2848592	NM_000301.5(PLG):c.447G>T (p.Glu149Asp)	PLG (E149D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2843603	NM_000301.5(PLG):c.517T>C (p.Tyr173His)	PLG (Y173H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2842672	NM_000301.5(PLG):c.548-11A>C	PLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842619	NM_000301.5(PLG):c.49+15T>A	PLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2838540	NM_000301.5(PLG):c.2137G>A (p.Ala713Thr)	PLG (A713T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2838302	NM_000301.5(PLG):c.1473C>T (p.Gly491=)	PLG	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2833348	NM_000301.5(PLG):c.1438+9T>C	PLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831684	NM_000301.5(PLG):c.668+20A>C	PLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831422	NM_000301.5(PLG):c.1188G>C (p.Lys396Asn)	PLG (K396N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2813406	NM_000301.5(PLG):c.1376C>G (p.Ala459Gly)	PLG (A459G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812161	NM_000301.5(PLG):c.2063C>G (p.Ser688Cys)	PLG (S688C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811505	NM_000301.5(PLG):c.2272-7T>C	PLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2809898	NM_000301.5(PLG):c.1627T>C (p.Cys543Arg)	PLG (C543R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805992	NM_000301.5(PLG):c.2025C>T (p.Ala675=)	PLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804815	NM_000301.5(PLG):c.1935C>T (p.Leu645=)	PLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803521	NM_000301.5(PLG):c.2142C>A (p.Gly714=)	PLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801477	NM_000301.5(PLG):c.164A>G (p.Glu55Gly)	PLG (E55G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 5