ClinVar for Gene (Select 79671) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 146

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3300132	NM_001282144.2(NLRX1):c.949C>G (p.Leu317Val)	NLRX1 (L317V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300131	NM_001282144.2(NLRX1):c.916T>C (p.Tyr306His)	NLRX1 (Y306H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300130	NM_001282144.2(NLRX1):c.2039T>C (p.Phe680Ser)	NLRX1 (F680S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300129	NM_001282144.2(NLRX1):c.331G>A (p.Val111Ile)	NLRX1 (V111I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300127	NM_001282144.2(NLRX1):c.767C>T (p.Thr256Met)	NLRX1 (T256M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244710	NC_000011.9:g.(?_118007742)_(119170491_?)del	ABCG4, ARCN1 +36 more	Deletion	not provided	GPathogenic
Select item 3244705	NC_000011.9:g.(?_118007742)_(119170491_?)dup	ABCG4, ARCN1 +36 more	Duplication	Atrial fibrillation, familial, 14	GUncertain significance
Select item 3200770	NM_001282144.2(NLRX1):c.931G>A (p.Gly311Ser)	NLRX1 (G311S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200769	NM_001282144.2(NLRX1):c.883A>T (p.Ile295Phe)	NLRX1 (I295F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200768	NM_001282144.2(NLRX1):c.874C>G (p.Pro292Ala)	NLRX1 (P292A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200767	NM_001282144.2(NLRX1):c.817G>A (p.Val273Ile)	NLRX1 (V273I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200766	NM_001282144.2(NLRX1):c.421C>T (p.Leu141Phe)	NLRX1 (L141F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200765	NM_001282144.2(NLRX1):c.370C>T (p.Leu124Phe)	NLRX1 (L124F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200764	NM_001282144.2(NLRX1):c.308C>G (p.Thr103Ser)	NLRX1 (T103S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200763	NM_001282144.2(NLRX1):c.2884G>A (p.Glu962Lys)	NLRX1 (E962K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200762	NM_001282144.2(NLRX1):c.275G>A (p.Arg92Gln)	NLRX1 (R92Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200761	NM_001282144.2(NLRX1):c.2693T>C (p.Val898Ala)	NLRX1 (V898A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3200760	NM_001282144.2(NLRX1):c.25A>G (p.Arg9Gly)	NLRX1 (R9G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200759	NM_001282144.2(NLRX1):c.2401G>A (p.Glu801Lys)	NLRX1 (E801K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200758	NM_001282144.2(NLRX1):c.2041T>C (p.Phe681Leu)	NLRX1 (F681L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200757	NM_001282144.2(NLRX1):c.194G>T (p.Arg65Met)	NLRX1 (R65M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200756	NM_001282144.2(NLRX1):c.1870C>T (p.Pro624Ser)	NLRX1 (P624S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200755	NM_001282144.2(NLRX1):c.1795G>T (p.Ala599Ser)	NLRX1 (A599S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200754	NM_001282144.2(NLRX1):c.1790T>C (p.Met597Thr)	NLRX1 (M597T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200753	NM_001282144.2(NLRX1):c.1712G>A (p.Arg571Gln)	NLRX1 (R571Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200752	NM_001282144.2(NLRX1):c.1331T>G (p.Phe444Cys)	NLRX1 (F444C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200751	NM_001282144.2(NLRX1):c.1172G>T (p.Gly391Val)	NLRX1 (G391V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 2689593	NM_001282144.2(NLRX1):c.1468T>A (p.Phe490Ile)	NLRX1 (F490I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2642459	NM_001282144.2(NLRX1):c.1639C>T (p.Arg547Trp)	NLRX1 (R547W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2642458	NM_001282144.2(NLRX1):c.347G>A (p.Arg116His)	NLRX1 (R116H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2613606	NM_001282144.2(NLRX1):c.2797C>T (p.Leu933Phe)	NLRX1 (L933F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613322	NM_001282144.2(NLRX1):c.1912G>T (p.Val638Leu)	NLRX1 (V638L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606007	NM_001282144.2(NLRX1):c.1321A>G (p.Lys441Glu)	NLRX1 (K441E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555609	NM_001282144.2(NLRX1):c.2875G>T (p.Val959Leu)	NLRX1 (V959L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552415	NM_001282144.2(NLRX1):c.2627G>A (p.Ser876Asn)	NLRX1 (S876N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548456	NM_001282144.2(NLRX1):c.670A>C (p.Lys224Gln)	NLRX1 (K224Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546314	NM_001282144.2(NLRX1):c.2411C>G (p.Ala804Gly)	NLRX1 (A804G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543969	NM_001282144.2(NLRX1):c.941A>T (p.Asp314Val)	NLRX1 (D314V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535402	NM_001282144.2(NLRX1):c.1861G>A (p.Glu621Lys)	NLRX1 (E621K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529235	NM_001282144.2(NLRX1):c.2794C>T (p.His932Tyr)	NLRX1 (H932Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520721	NM_001282144.2(NLRX1):c.292C>T (p.Arg98Cys)	NLRX1 (R98C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510860	NM_001282144.2(NLRX1):c.1064C>T (p.Ser355Phe)	NLRX1 (S355F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510728	NM_001282144.2(NLRX1):c.2041T>A (p.Phe681Ile)	NLRX1 (F681I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484493	NM_001282144.2(NLRX1):c.927C>G (p.Ile309Met)	NLRX1 (I309M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467078	NM_001282144.2(NLRX1):c.427C>G (p.Pro143Ala)	NLRX1 (P143A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460030	NM_001282144.2(NLRX1):c.2596G>C (p.Glu866Gln)	NLRX1 (E866Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425315	NC_000011.9:g.(?_118967708)_(119103425_?)dup	ABCG4, C2CD2L +6 more	Duplication	RASopathy	GUncertain significance
Select item 2422557	NC_000011.9:g.(?_117209303)_(120133495_?)dup	ABCG4, ARCN1 +54 more	Duplication	not provided	GUncertain significance
Select item 2422303	NC_000011.9:g.(?_116691583)_(121500272_?)dup	ABCG4, APOA1 +72 more	Duplication	Immunodeficiency 19 +5 more	GUncertain significance
Select item 2412295	NM_001282144.2(NLRX1):c.1429T>C (p.Phe477Leu)	NLRX1 (F477L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409227	NM_001282144.2(NLRX1):c.2258G>A (p.Arg753Gln)	NLRX1 (R753Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408606	NM_001282144.2(NLRX1):c.2498G>A (p.Arg833His)	NLRX1 (R833H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405093	NM_001282144.2(NLRX1):c.1301A>G (p.Tyr434Cys)	NLRX1 (Y434C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402179	NM_001282144.2(NLRX1):c.2096G>A (p.Arg699His)	NLRX1 (R699H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400185	NM_001282144.2(NLRX1):c.830G>A (p.Arg277His)	NLRX1 (R277H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2393242	NM_001282144.2(NLRX1):c.251G>T (p.Arg84Leu)	NLRX1 (R84L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389895	NM_001282144.2(NLRX1):c.2524G>A (p.Val842Met)	NLRX1 (V842M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386569	NM_001282144.2(NLRX1):c.2812C>T (p.Arg938Trp)	NLRX1 (R938W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384106	NM_001282144.2(NLRX1):c.1318C>T (p.Arg440Cys)	NLRX1 (R440C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375885	NM_001282144.2(NLRX1):c.655C>T (p.Arg219Cys)	NLRX1 (R219C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374714	NM_001282144.2(NLRX1):c.1810G>A (p.Val604Met)	NLRX1 (V604M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369757	NM_001282144.2(NLRX1):c.131G>A (p.Gly44Glu)	NLRX1 (G44E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363164	NM_001282144.2(NLRX1):c.2450C>T (p.Thr817Met)	NLRX1 (T817M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355716	NM_001282144.2(NLRX1):c.1582C>T (p.Arg528Cys)	NLRX1 (R528C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339826	NM_001282144.2(NLRX1):c.1868T>C (p.Phe623Ser)	NLRX1 (F623S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324227	NM_001282144.2(NLRX1):c.2675G>T (p.Gly892Val)	NLRX1 (G892V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314773	NM_001282144.2(NLRX1):c.559C>T (p.Arg187Trp)	NLRX1 (R187W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313557	NM_001282144.2(NLRX1):c.2431C>G (p.His811Asp)	NLRX1 (H811D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300459	NM_001282144.2(NLRX1):c.2702C>T (p.Thr901Ile)	NLRX1 (T901I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278177	NM_001282144.2(NLRX1):c.470G>T (p.Arg157Leu)	NLRX1 (R157L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273665	NM_001282144.2(NLRX1):c.2620G>A (p.Glu874Lys)	NLRX1 (E874K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259258	NM_001282144.2(NLRX1):c.1450C>T (p.Pro484Ser)	NLRX1 (P484S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255523	NM_001282144.2(NLRX1):c.2607C>A (p.His869Gln)	NLRX1 (H869Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254770	NM_001282144.2(NLRX1):c.2847T>A (p.Asn949Lys)	NLRX1 (N949K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247028	NM_001282144.2(NLRX1):c.1486G>A (p.Ala496Thr)	NLRX1 (A496T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227174	NM_001282144.2(NLRX1):c.496G>A (p.Gly166Arg)	NLRX1 (G166R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216651	NM_001282144.2(NLRX1):c.1711C>T (p.Arg571Trp)	NLRX1 (R571W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215574	NM_001282144.2(NLRX1):c.969G>C (p.Gln323His)	NLRX1 (Q323H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213286	NM_001282144.2(NLRX1):c.2780C>G (p.Ala927Gly)	NLRX1 (A927G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2206152	NM_001282144.2(NLRX1):c.2429C>T (p.Thr810Met)	NLRX1 (T810M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1410294	NC_000011.9:g.(?_116660844)_(121500272_?)dup	GRIK4, H2AX +73 more	Duplication	not provided	GUncertain significance
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1340179	GRCh37/hg19 11q23.3(chr11:118849155-119067781)x3	ABCG4, C2CD2L +14 more	Copy number gain	not provided	GUncertain significance
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 833331	NC_000011.9:g.(?_118967698)_(119170501_?)dup	ABCG4, C2CD2L +6 more	Duplication	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 815474	GRCh37/hg19 11q23.3(chr11:118280670-119650105)x3	ABCG4, ARCN1 +33 more	Copy number gain	not provided	GUncertain significance
Select item 812956	Single allele	APLP2, LINC02873 +169 more	Deletion	Anemia +7 more	GLikely pathogenic
Select item 745800	NM_001282144.2(NLRX1):c.381C>T (p.Pro127=)	NLRX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711068	NM_001282144.2(NLRX1):c.77G>A (p.Arg26His)	NLRX1 (R26H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710016	NM_001282144.2(NLRX1):c.1119T>C (p.Tyr373=)	NLRX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	CD3G, CDON +160 more	Copy number gain	not provided	GPathogenic
Select item 659604	NC_000011.9:g.(?_118007722)_(119170511_?)del	DDX6, DPAGT1 +36 more	Deletion	Long QT syndrome 10	GUncertain significance
Select item 652390	NC_000011.9:g.(?_118967698)_(119170501_?)del	ABCG4, C2CD2L +6 more	Deletion	DPAGT1-congenital disorder of glycosylation +1 more	GPathogenic
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	BACE1, BACE1-AS +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ARHGAP32, ARHGEF12 +177 more	Copy number gain	not provided	GPathogenic
Select item 563884	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563876	GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3	ABCG4, APOA1 +70 more	Copy number gain	not provided	GLikely pathogenic

<< First< Prev

Page of 2