ClinVar for Gene (Select 5352) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366598	NM_182943.3(PLOD2):c.2121+4A>T	PLOD2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3366369	NC_000003.11:g.(145804696_145806372)_(145809689_145820541)del	PLOD2	Deletion	not specified	GUncertain significance
Select item 3363157	NM_182943.3(PLOD2):c.1754A>T (p.Asp585Val)	PLOD2 (D564V +1 more)	Single nucleotide variant (missense variant)	Bruck syndrome 2	GLikely pathogenic
Select item 3361920	NM_182943.3(PLOD2):c.1967T>G (p.Leu656Arg)	PLOD2 (L635R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3355113	NM_182943.3(PLOD2):c.280A>G (p.Lys94Glu)	PLOD2 (K94E)	Single nucleotide variant (missense variant)	PLOD2-related disorder	GUncertain significance
Select item 3353406	NM_182943.3(PLOD2):c.319del (p.Val107fs)	PLOD2 (V107fs)	Deletion (frameshift variant)	PLOD2-related disorder	GLikely pathogenic
Select item 3352852	NM_182943.3(PLOD2):c.1134T>C (p.Phe378=)	PLOD2	Single nucleotide variant (synonymous variant)	PLOD2-related disorder	GLikely benign
Select item 3349360	NM_182943.3(PLOD2):c.1995+7A>G	PLOD2	Single nucleotide variant (intron variant)	PLOD2-related disorder	GLikely benign
Select item 3307811	NM_182943.3(PLOD2):c.883C>T (p.His295Tyr)	PLOD2 (H295Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3307810	NM_182943.3(PLOD2):c.421G>T (p.Asp141Tyr)	LOC129389144, PLOD2 (D141Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307809	NM_182943.3(PLOD2):c.808C>T (p.Pro270Ser)	PLOD2 (P270S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251531	NM_182943.3(PLOD2):c.2057C>T (p.Pro686Leu)	PLOD2 (P665L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215351	NM_182943.3(PLOD2):c.917A>G (p.Gln306Arg)	PLOD2 (Q306R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215350	NM_182943.3(PLOD2):c.611A>C (p.Lys204Thr)	PLOD2 (K204T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215349	NM_182943.3(PLOD2):c.1955C>T (p.Ala652Val)	PLOD2 (A652V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215348	NM_182943.3(PLOD2):c.1868G>C (p.Gly623Ala)	PLOD2 (G623A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215346	NM_182943.3(PLOD2):c.1230C>A (p.Asn410Lys)	PLOD2 (N410K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215345	NM_182943.3(PLOD2):c.1076T>G (p.Ile359Arg)	PLOD2 (I359R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065709	NM_182943.3(PLOD2):c.484C>T (p.Arg162Cys)	LOC129389144, PLOD2 (R162C)	Single nucleotide variant (missense variant)	Bruck syndrome 2	GUncertain significance
Select item 3065125	NM_182943.3(PLOD2):c.1848+1G>T	PLOD2	Single nucleotide variant (splice donor variant)	Bruck syndrome 2	GLikely pathogenic
Select item 3062703	GRCh37/hg19 3q24(chr3:144717495-148147770)x1	PLOD2, PLSCR1 +5 more	Copy number loss	not specified	GPathogenic
Select item 3012093	NM_182943.3(PLOD2):c.1854C>T (p.Ser618=)	PLOD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008849	NM_182943.3(PLOD2):c.195T>C (p.Thr65=)	PLOD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007496	NM_182943.3(PLOD2):c.1678-4A>G	PLOD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982922	NM_182943.3(PLOD2):c.778-4C>T	PLOD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981443	NM_182943.3(PLOD2):c.534T>C (p.Arg178=)	PLOD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981227	NM_182943.3(PLOD2):c.2122-3del	PLOD2	Deletion (intron variant)	not provided	GBenign
Select item 2979572	NM_182943.3(PLOD2):c.1533G>A (p.Pro511=)	PLOD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2976789	NM_182943.3(PLOD2):c.339-20A>G	PLOD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976788	NM_182943.3(PLOD2):c.1293A>G (p.Ala431=)	PLOD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975179	NM_182943.3(PLOD2):c.1500+9T>C	PLOD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974488	NM_182943.3(PLOD2):c.1358+9C>T	PLOD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968611	NM_182943.3(PLOD2):c.1744-20C>T	PLOD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962693	NM_182943.3(PLOD2):c.1359-15T>G	PLOD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957823	NM_182943.3(PLOD2):c.1996-18C>T	PLOD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906781	NM_182943.3(PLOD2):c.1459C>T (p.Leu487=)	PLOD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887877	NM_182943.3(PLOD2):c.1156G>A (p.Asp386Asn)	PLOD2 (D386N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881134	NM_182943.3(PLOD2):c.1996-9C>A	PLOD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2851883	NM_182943.3(PLOD2):c.1563+19T>C	PLOD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846347	NM_182943.3(PLOD2):c.1359-7C>T	PLOD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840019	NM_182943.3(PLOD2):c.201+1G>T	PLOD2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2828764	NM_182943.3(PLOD2):c.2122-4_2122-3del	PLOD2	Deletion (intron variant)	not provided	GLikely benign
Select item 2826246	NM_182943.3(PLOD2):c.893dup (p.Ser299fs)	PLOD2 (S299fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2819671	NM_182943.3(PLOD2):c.1653C>A (p.Leu551=)	PLOD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815532	NM_182943.3(PLOD2):c.1512G>A (p.Arg504=)	PLOD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2802393	NM_182943.3(PLOD2):c.1500+8A>G	PLOD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785840	NM_182943.3(PLOD2):c.603T>C (p.Asp201=)	PLOD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781350	NM_182943.3(PLOD2):c.1345del (p.Gln449fs)	PLOD2 (Q449fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2780526	NM_182943.3(PLOD2):c.1089A>G (p.Glu363=)	PLOD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2747849	NM_182943.3(PLOD2):c.818G>A (p.Trp273Ter)	PLOD2 (W273*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2711440	NM_182943.3(PLOD2):c.1712del (p.Tyr570_Ser571insTer)	PLOD2	Deletion (nonsense)	not provided	GPathogenic
Select item 2698116	NM_182943.3(PLOD2):c.261C>A (p.Gly87=)	PLOD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2693050	NM_182943.3(PLOD2):c.777+9C>T	PLOD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2672963	NM_182943.3(PLOD2):c.1179A>C (p.Ala393=)	PLOD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2654208	NM_182943.3(PLOD2):c.742T>C (p.Leu248=)	PLOD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637791	NM_182943.3(PLOD2):c.1005+15A>G	PLOD2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2635857	NM_182943.3(PLOD2):c.971C>T (p.Pro324Leu)	PLOD2 (P324L)	Single nucleotide variant (missense variant)	PLOD2-related disorder	GUncertain significance
Select item 2627005	NM_182943.3(PLOD2):c.1670A>G (p.Asn557Ser)	PLOD2 (N536S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2612568	NM_182943.3(PLOD2):c.1493G>T (p.Arg498Ile)	PLOD2 (R498I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609605	NM_182943.3(PLOD2):c.547T>C (p.Trp183Arg)	PLOD2 (W183R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604250	NM_182943.3(PLOD2):c.691T>G (p.Leu231Val)	PLOD2 (L231V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2581591	NM_182943.3(PLOD2):c.2122-8T>A	PLOD2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2581069	NM_182943.3(PLOD2):c.1872T>G (p.Tyr624Ter)	PLOD2 (Y603* +1 more)	Single nucleotide variant (nonsense)	Bruck syndrome 2	GLikely pathogenic
Select item 2579867	NM_182943.3(PLOD2):c.1128-13T>C	PLOD2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2576839	NM_182943.3(PLOD2):c.2122-2A>G	PLOD2	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2574996	NM_182943.3(PLOD2):c.1318C>T (p.Arg440Ter)	PLOD2 (R440*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2553047	NM_182943.3(PLOD2):c.809C>T (p.Pro270Leu)	PLOD2 (P270L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550239	NM_182943.3(PLOD2):c.205C>T (p.Leu69Phe)	PLOD2 (L69F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538004	NM_182943.3(PLOD2):c.1484G>A (p.Arg495Gln)	PLOD2 (R495Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511855	NM_182943.3(PLOD2):c.4G>T (p.Gly2Trp)	PLOD2 (G2W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486340	NM_182943.3(PLOD2):c.1981G>A (p.Gly661Ser)	PLOD2 (G640S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480257	NM_182943.3(PLOD2):c.103C>G (p.Pro35Ala)	PLOD2 (P35A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469520	NM_182943.3(PLOD2):c.1447G>A (p.Val483Ile)	PLOD2 (V483I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445866	NM_182943.3(PLOD2):c.2170C>T (p.Arg724Ter)	PLOD2 (R703* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2435087	NM_182943.3(PLOD2):c.2143A>G (p.Arg715Gly)	PLOD2 (R694G +1 more)	Single nucleotide variant (missense variant)	Bruck syndrome 2	GUncertain significance
Select item 2427610	NC_000003.11:g.(?_145788504)_(145878776_?)dup	PLOD2	Duplication	not provided	GUncertain significance
Select item 2419642	NM_182943.3(PLOD2):c.1582T>C (p.Ser528Pro)	PLOD2 (S507P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419258	NM_182943.3(PLOD2):c.1017T>C (p.His339=)	PLOD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2333783	NM_182943.3(PLOD2):c.1009G>A (p.Val337Ile)	PLOD2 (V337I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323589	NM_182943.3(PLOD2):c.406G>C (p.Val136Leu)	LOC129389144, PLOD2 (V136L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280535	NM_182943.3(PLOD2):c.53A>C (p.His18Pro)	PLOD2 (H18P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273381	NM_182943.3(PLOD2):c.892G>C (p.Val298Leu)	PLOD2 (V298L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262953	NM_182943.3(PLOD2):c.2074A>G (p.Thr692Ala)	PLOD2 (T671A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244302	NM_182943.3(PLOD2):c.437C>A (p.Pro146Gln)	LOC129389144, PLOD2 (P146Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2191546	NM_182943.3(PLOD2):c.97A>T (p.Ser33Cys)	PLOD2 (S33C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2184351	NM_182943.3(PLOD2):c.124A>G (p.Ile42Val)	PLOD2 (I42V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181969	NM_182943.3(PLOD2):c.565GAT[4] (p.Asp191_Gln192insAsp)	PLOD2	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2173427	NM_182943.3(PLOD2):c.1139G>A (p.Arg380His)	PLOD2 (R380H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2172283	NM_182943.3(PLOD2):c.257G>A (p.Gly86Glu)	PLOD2 (G86E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2168003	NM_182943.3(PLOD2):c.1689A>C (p.Glu563Asp)	PLOD2 (E542D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167599	NM_182943.3(PLOD2):c.2039G>A (p.Arg680Gln)	PLOD2 (R680Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2163902	NM_182943.3(PLOD2):c.27G>A (p.Gln9=)	PLOD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2158682	NM_182943.3(PLOD2):c.364C>T (p.Pro122Ser)	LOC129389144, PLOD2 (P122S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2154014	NM_182943.3(PLOD2):c.1940T>C (p.Ile647Thr)	PLOD2 (I626T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2142346	NM_182943.3(PLOD2):c.530A>G (p.Asn177Ser)	PLOD2 (N177S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2125270	NM_182943.3(PLOD2):c.364C>G (p.Pro122Ala)	LOC129389144, PLOD2 (P122A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2119884	NM_182943.3(PLOD2):c.462T>G (p.Tyr154Ter)	LOC129389144, PLOD2 (Y154*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2091466	NM_182943.3(PLOD2):c.2127T>C (p.Gly709=)	PLOD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2080315	NM_182943.3(PLOD2):c.1842A>T (p.Lys614Asn)	PLOD2 (K593N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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