ClinVar for Gene (Select 8985) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3307813	NM_001084.5(PLOD3):c.1823C>T (p.Pro608Leu)	PLOD3 (P608L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307812	NM_001084.5(PLOD3):c.1559G>C (p.Arg520Thr)	PLOD3 (R520T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	MCM7, SPACDR +106 more	Deletion	not provided	GPathogenic
Select item 3245863	NC_000007.13:g.(?_100860427)_(100860555_?)del	PLOD3	Deletion	not provided	GPathogenic
Select item 3215363	NM_001084.5(PLOD3):c.851A>G (p.Gln284Arg)	PLOD3 (Q284R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3215362	NM_001084.5(PLOD3):c.546G>C (p.Gln182His)	PLOD3 (Q182H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215361	NM_001084.5(PLOD3):c.539T>C (p.Val180Ala)	PLOD3 (V180A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215360	NM_001084.5(PLOD3):c.52C>G (p.Leu18Val)	PLOD3 (L18V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215359	NM_001084.5(PLOD3):c.484C>T (p.Arg162Cys)	PLOD3 (R162C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3215358	NM_001084.5(PLOD3):c.460T>G (p.Tyr154Asp)	PLOD3 (Y154D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215357	NM_001084.5(PLOD3):c.2201C>T (p.Ser734Phe)	PLOD3 (S734F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215356	NM_001084.5(PLOD3):c.2183C>T (p.Thr728Ile)	PLOD3 (T728I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215355	NM_001084.5(PLOD3):c.170G>T (p.Arg57Leu)	PLOD3 (R57L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215354	NM_001084.5(PLOD3):c.1579C>G (p.His527Asp)	PLOD3 (H527D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215353	NM_001084.5(PLOD3):c.1526A>G (p.Gln509Arg)	PLOD3 (Q509R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3215352	NM_001084.5(PLOD3):c.1139G>A (p.Arg380Gln)	PLOD3 (R380Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065547	NM_001084.5(PLOD3):c.1359-1G>C	PLOD3	Single nucleotide variant (splice acceptor variant)	Bone fragility with contractures, arterial rupture, and deafness	GLikely pathogenic
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 3062968	GRCh37/hg19 7q22.1(chr7:100454649-101886704)x1	ACHE, AP1S1 +20 more	Copy number loss	not specified	GPathogenic
Select item 3046329	NM_001084.5(PLOD3):c.1108G>A (p.Glu370Lys)	PLOD3 (E370K)	Single nucleotide variant (missense variant)	PLOD3-related disorder	GUncertain significance
Select item 3023830	NM_001084.5(PLOD3):c.1005+10_1005+11insAG	PLOD3	Insertion (intron variant)	not provided	GLikely benign
Select item 3022483	NM_001084.5(PLOD3):c.1232+13del	PLOD3	Deletion (intron variant)	not provided	GBenign
Select item 3022437	NM_001084.5(PLOD3):c.201+7A>G	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020723	NM_001084.5(PLOD3):c.1912C>T (p.Leu638=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010759	NM_001084.5(PLOD3):c.485G>T (p.Arg162Leu)	PLOD3 (R162L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009466	NM_001084.5(PLOD3):c.1857C>T (p.Tyr619=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008812	NM_001084.5(PLOD3):c.1358+19C>T	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006997	NM_001084.5(PLOD3):c.1314C>T (p.Tyr438=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005110	NM_001084.5(PLOD3):c.1131C>T (p.Asp377=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3004861	NM_001084.5(PLOD3):c.938G>A (p.Arg313His)	PLOD3 (R313H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3004838	NM_001084.5(PLOD3):c.777+18A>C	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003777	NM_001084.5(PLOD3):c.1127+17G>A	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003518	NM_001084.5(PLOD3):c.2127C>T (p.Leu709=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003192	NM_001084.5(PLOD3):c.1809C>T (p.Gly603=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002906	NM_001084.5(PLOD3):c.1683+9A>T	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001931	NM_001084.5(PLOD3):c.777+7C>G	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001772	NM_001084.5(PLOD3):c.1050C>T (p.Leu350=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001010	NM_001084.5(PLOD3):c.1920C>T (p.Pro640=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997063	NM_001084.5(PLOD3):c.616-32_616-15dup	PLOD3	Duplication (intron variant)	not provided	GLikely benign
Select item 2996637	NM_001084.5(PLOD3):c.2164C>T (p.Leu722=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995863	NM_001084.5(PLOD3):c.1011C>T (p.Val337=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994849	NM_001084.5(PLOD3):c.2025C>T (p.Leu675=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994594	NM_001084.5(PLOD3):c.110-19C>T	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994130	NM_001084.5(PLOD3):c.1242C>T (p.Ile414=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993592	NM_001084.5(PLOD3):c.1615-18C>T	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993057	NM_001084.5(PLOD3):c.1563C>T (p.Tyr521=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991266	NM_001084.5(PLOD3):c.2154C>T (p.Tyr718=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991218	NM_001084.5(PLOD3):c.1188C>T (p.Val396=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991182	NM_001084.5(PLOD3):c.1182C>T (p.Asp394=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991118	NM_001084.5(PLOD3):c.1788+13G>A	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990507	NM_001084.5(PLOD3):c.357C>T (p.Ala119=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989207	NM_001084.5(PLOD3):c.852G>A (p.Gln284=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988398	NM_001084.5(PLOD3):c.1127+8G>A	PLOD3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2986285	NM_001084.5(PLOD3):c.777+8C>G	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985460	NM_001084.5(PLOD3):c.1779C>T (p.Gly593=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985219	NM_001084.5(PLOD3):c.1860G>A (p.Glu620=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985138	NM_001084.5(PLOD3):c.1006-9C>T	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984840	NM_001084.5(PLOD3):c.889del (p.Arg297fs)	PLOD3 (R297fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2984338	NM_001084.5(PLOD3):c.777+20C>T	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983352	NM_001084.5(PLOD3):c.1113C>G (p.Ala371=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981293	NM_001084.5(PLOD3):c.1500+16C>T	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980821	NM_001084.5(PLOD3):c.338+8G>T	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979508	NM_001084.5(PLOD3):c.1992G>A (p.Leu664=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979472	NM_001084.5(PLOD3):c.828G>A (p.Glu276=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977995	NM_001084.5(PLOD3):c.2163G>A (p.Gly721=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971518	NM_001084.5(PLOD3):c.1233-11C>T	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970955	NM_001084.5(PLOD3):c.721C>T (p.Arg241Trp)	PLOD3 (R241W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965366	NM_001084.5(PLOD3):c.889C>T (p.Arg297Trp)	PLOD3 (R297W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2962528	NM_001084.5(PLOD3):c.387C>T (p.Phe129=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961942	NM_001084.5(PLOD3):c.778-16A>C	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957443	NM_001084.5(PLOD3):c.18T>C (p.Pro6=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955466	NM_001084.5(PLOD3):c.503-12C>T	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955139	NM_001084.5(PLOD3):c.2109G>A (p.Pro703=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2909270	NM_001084.5(PLOD3):c.1777G>A (p.Gly593Ser)	PLOD3 (G593S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907454	NM_001084.5(PLOD3):c.1005+8T>A	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907453	NM_001084.5(PLOD3):c.1005+9C>G	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907452	NM_001084.5(PLOD3):c.1005+10C>G	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906508	NM_001084.5(PLOD3):c.1029C>T (p.Ile343=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900062	NM_001084.5(PLOD3):c.1452C>G (p.Gly484=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2897011	NM_001084.5(PLOD3):c.1005+1G>A	PLOD3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2896804	NM_001084.5(PLOD3):c.1209G>T (p.Leu403=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896614	NM_001084.5(PLOD3):c.771C>T (p.Pro257=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895752	NM_001084.5(PLOD3):c.1467G>A (p.Pro489=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895584	NM_001084.5(PLOD3):c.1258C>T (p.Arg420Cys)	PLOD3 (R420C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889302	NM_001084.5(PLOD3):c.1077C>T (p.Leu359=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885304	NM_001084.5(PLOD3):c.201+7dup	PLOD3	Duplication (intron variant)	not provided	GLikely benign
Select item 2885071	NM_001084.5(PLOD3):c.510C>T (p.Ile170=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883567	NM_001084.5(PLOD3):c.1599C>T (p.Ile533=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881898	NM_001084.5(PLOD3):c.778-19C>T	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879377	NM_001084.5(PLOD3):c.1149C>A (p.Pro383=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876934	NM_001084.5(PLOD3):c.1501-12A>G	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876183	NM_001084.5(PLOD3):c.255T>C (p.Gly85=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875612	NM_001084.5(PLOD3):c.1936-15C>T	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873159	NM_001084.5(PLOD3):c.1005+10C>T	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867518	NM_001084.5(PLOD3):c.1789-14C>T	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859808	NM_001084.5(PLOD3):c.131_132del (p.Val44fs)	PLOD3 (V44fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2853079	NM_001084.5(PLOD3):c.880-17C>G	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2851656	NM_001084.5(PLOD3):c.1005+9C>T	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835760	NM_001084.5(PLOD3):c.882T>C (p.Pro294=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835531	NM_001084.5(PLOD3):c.210C>T (p.Gly70=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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