ClinVar for Gene (Select 139804) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3313367	NM_001145346.2(RBMXL3):c.931T>C (p.Cys311Arg)	LRCH2, RBMXL3 (C311R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313366	NM_001145346.2(RBMXL3):c.941C>A (p.Ala314Asp)	LRCH2, RBMXL3 (A314D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313365	NM_001145346.2(RBMXL3):c.866A>T (p.His289Leu)	LRCH2, RBMXL3 (H289L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313363	NM_001145346.2(RBMXL3):c.1697G>A (p.Gly566Asp)	LRCH2, RBMXL3 (G566D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313362	NM_001145346.2(RBMXL3):c.242T>G (p.Val81Gly)	LRCH2, RBMXL3 (V81G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313361	NM_001145346.2(RBMXL3):c.536G>C (p.Arg179Pro)	LRCH2, RBMXL3 (R179P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313360	NM_001145346.2(RBMXL3):c.982C>T (p.Arg328Cys)	LRCH2, RBMXL3 (R328C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313359	NM_001145346.2(RBMXL3):c.2341G>A (p.Glu781Lys)	LRCH2, RBMXL3 (E781K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313358	NM_001145346.2(RBMXL3):c.2974G>A (p.Asp992Asn)	LRCH2, RBMXL3 (D992N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313357	NM_001145346.2(RBMXL3):c.1481G>A (p.Gly494Asp)	LRCH2, RBMXL3 (G494D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313356	NM_001145346.2(RBMXL3):c.589C>T (p.Arg197Trp)	LRCH2, RBMXL3 (R197W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313355	NM_001145346.2(RBMXL3):c.634A>G (p.Ser212Gly)	LRCH2, RBMXL3 (S212G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313352	NM_001145346.2(RBMXL3):c.463C>T (p.Arg155Trp)	LRCH2, RBMXL3 (R155W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313351	NM_001145346.2(RBMXL3):c.2891G>A (p.Arg964His)	LRCH2, RBMXL3 (R964H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3313350	NM_001145346.2(RBMXL3):c.647T>C (p.Ile216Thr)	LRCH2, RBMXL3 (I216T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3246674	NC_000023.10:g.(?_113818282)_(115590299_?)del	AGTR2, DANT2 +8 more	Deletion	not provided	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3152574	NM_001145346.2(RBMXL3):c.926G>T (p.Gly309Val)	LRCH2, RBMXL3 (G309V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152573	NM_001145346.2(RBMXL3):c.835G>A (p.Gly279Ser)	LRCH2, RBMXL3 (G279S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152572	NM_001145346.2(RBMXL3):c.785G>A (p.Arg262His)	LRCH2, RBMXL3 (R262H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152571	NM_001145346.2(RBMXL3):c.764C>T (p.Ala255Val)	LRCH2, RBMXL3 (A255V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152570	NM_001145346.2(RBMXL3):c.652G>A (p.Gly218Ser)	LRCH2, RBMXL3 (G218S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152569	NM_001145346.2(RBMXL3):c.601G>A (p.Gly201Ser)	LRCH2, RBMXL3 (G201S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152567	NM_001145346.2(RBMXL3):c.503C>T (p.Ser168Leu)	LRCH2, RBMXL3 (S168L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152566	NM_001145346.2(RBMXL3):c.392G>A (p.Arg131His)	LRCH2, RBMXL3 (R131H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3152565	NM_001145346.2(RBMXL3):c.37G>A (p.Gly13Arg)	LRCH2, RBMXL3 (G13R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152564	NM_001145346.2(RBMXL3):c.3197G>C (p.Arg1066Thr)	LRCH2, RBMXL3 (R1066T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152563	NM_001145346.2(RBMXL3):c.313T>C (p.Ser105Pro)	LRCH2, RBMXL3 (S105P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152562	NM_001145346.2(RBMXL3):c.3124C>T (p.Arg1042Trp)	LRCH2, RBMXL3 (R1042W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152561	NM_001145346.2(RBMXL3):c.3029G>A (p.Arg1010His)	LRCH2, RBMXL3 (R1010H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152560	NM_001145346.2(RBMXL3):c.2939G>A (p.Gly980Glu)	LRCH2, RBMXL3 (G980E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152559	NM_001145346.2(RBMXL3):c.2936G>C (p.Gly979Ala)	LRCH2, RBMXL3 (G979A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152558	NM_001145346.2(RBMXL3):c.2893G>A (p.Asp965Asn)	LRCH2, RBMXL3 (D965N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152557	NM_001145346.2(RBMXL3):c.2843G>A (p.Arg948His)	LRCH2, RBMXL3 (R948H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152556	NM_001145346.2(RBMXL3):c.2755C>T (p.Arg919Cys)	LRCH2, RBMXL3 (R919C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152555	NM_001145346.2(RBMXL3):c.269A>G (p.Lys90Arg)	LRCH2, RBMXL3 (K90R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152554	NM_001145346.2(RBMXL3):c.2647G>A (p.Gly883Arg)	LRCH2, RBMXL3 (G883R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152553	NM_001145346.2(RBMXL3):c.2627G>A (p.Arg876Gln)	LRCH2, RBMXL3 (R876Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152552	NM_001145346.2(RBMXL3):c.2584G>A (p.Glu862Lys)	LRCH2, RBMXL3 (E862K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152550	NM_001145346.2(RBMXL3):c.2551C>G (p.Arg851Gly)	LRCH2, RBMXL3 (R851G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152549	NM_001145346.2(RBMXL3):c.2468G>A (p.Gly823Asp)	LRCH2, RBMXL3 (G823D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152548	NM_001145346.2(RBMXL3):c.2404G>T (p.Gly802Cys)	LRCH2, RBMXL3 (G802C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152547	NM_001145346.2(RBMXL3):c.2401G>A (p.Gly801Arg)	LRCH2, RBMXL3 (G801R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152546	NM_001145346.2(RBMXL3):c.2389A>G (p.Asn797Asp)	LRCH2, RBMXL3 (N797D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3152545	NM_001145346.2(RBMXL3):c.2263C>T (p.Arg755Cys)	LRCH2, RBMXL3 (R755C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152544	NM_001145346.2(RBMXL3):c.2245G>A (p.Asp749Asn)	LRCH2, RBMXL3 (D749N)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 3152543	NM_001145346.2(RBMXL3):c.2171C>T (p.Ser724Leu)	LRCH2, RBMXL3 (S724L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152542	NM_001145346.2(RBMXL3):c.2144C>T (p.Ser715Leu)	LRCH2, RBMXL3 (S715L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152541	NM_001145346.2(RBMXL3):c.2097C>G (p.Ser699Arg)	LRCH2, RBMXL3 (S699R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152540	NM_001145346.2(RBMXL3):c.2024G>A (p.Arg675His)	LRCH2, RBMXL3 (R675H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152539	NM_001145346.2(RBMXL3):c.1990G>A (p.Gly664Arg)	LRCH2, RBMXL3 (G664R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152538	NM_001145346.2(RBMXL3):c.1984T>C (p.Cys662Arg)	LRCH2, RBMXL3 (C662R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152537	NM_001145346.2(RBMXL3):c.1981A>C (p.Asn661His)	LRCH2, RBMXL3 (N661H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152536	NM_001145346.2(RBMXL3):c.1976A>G (p.Gln659Arg)	LRCH2, RBMXL3 (Q659R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152535	NM_001145346.2(RBMXL3):c.1972G>A (p.Gly658Ser)	RBMXL3, LRCH2 (G658S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3152534	NM_001145346.2(RBMXL3):c.1867C>T (p.Arg623Cys)	LRCH2, RBMXL3 (R623C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152532	NM_001145346.2(RBMXL3):c.184G>A (p.Ala62Thr)	LRCH2, RBMXL3 (A62T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152531	NM_001145346.2(RBMXL3):c.1847A>T (p.Asp616Val)	LRCH2, RBMXL3 (D616V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152530	NM_001145346.2(RBMXL3):c.1783C>G (p.Arg595Gly)	LRCH2, RBMXL3 (R595G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152529	NM_001145346.2(RBMXL3):c.1775A>T (p.Glu592Val)	LRCH2, RBMXL3 (E592V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152528	NM_001145346.2(RBMXL3):c.1765G>A (p.Gly589Ser)	LRCH2, RBMXL3 (G589S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152526	NM_001145346.2(RBMXL3):c.1717A>G (p.Ser573Gly)	LRCH2, RBMXL3 (S573G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152525	NM_001145346.2(RBMXL3):c.1672C>T (p.Arg558Cys)	LRCH2, RBMXL3 (R558C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152523	NM_001145346.2(RBMXL3):c.1573C>T (p.Arg525Cys)	LRCH2, RBMXL3 (R525C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152522	NM_001145346.2(RBMXL3):c.1345G>A (p.Asp449Asn)	LRCH2, RBMXL3 (D449N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152521	NM_001145346.2(RBMXL3):c.1076G>A (p.Arg359Lys)	LRCH2, RBMXL3 (R359K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 2685761	GRCh37/hg19 Xq23-25(chrX:110921170-124327177)x2	AGTR2, AKAP14 +66 more	Copy number gain	not provided	GPathogenic
Select item 2685715	GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	ACSL4, AGTR2 +175 more	Copy number loss	not provided	GPathogenic
Select item 2684996	GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3	ACSL4, AGTR2 +159 more	Copy number gain	not provided	GPathogenic
Select item 2661246	NM_001145346.2(RBMXL3):c.3048C>G (p.Asp1016Glu)	LRCH2, RBMXL3 (D1016E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2661245	NM_001145346.2(RBMXL3):c.2997C>T (p.Asp999=)	LRCH2, RBMXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2661244	NM_001145346.2(RBMXL3):c.2280C>T (p.Tyr760=)	LRCH2, RBMXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2661243	NM_001145346.2(RBMXL3):c.2148T>G (p.Leu716=)	LRCH2, RBMXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2661242	NM_001145346.2(RBMXL3):c.2124C>T (p.Tyr708=)	LRCH2, RBMXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2661241	NM_001145346.2(RBMXL3):c.2073G>C (p.Gly691=)	LRCH2, RBMXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2661240	NM_001145346.2(RBMXL3):c.1817G>A (p.Arg606His)	LRCH2, RBMXL3 (R606H)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2661239	NM_001145346.2(RBMXL3):c.1667G>A (p.Arg556Gln)	LRCH2, RBMXL3 (R556Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2661238	NM_001145346.2(RBMXL3):c.1572C>T (p.Gly524=)	LRCH2, RBMXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2661237	NM_001145346.2(RBMXL3):c.1485C>T (p.His495=)	LRCH2, RBMXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2661236	NM_001145346.2(RBMXL3):c.1476T>C (p.Ser492=)	RBMXL3, LRCH2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2661235	NM_001145346.2(RBMXL3):c.1464C>T (p.Pro488=)	LRCH2, RBMXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2661234	NM_001145346.2(RBMXL3):c.1449T>C (p.Ser483=)	LRCH2, RBMXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2661233	NM_001145346.2(RBMXL3):c.1191_1192insAACGCCCACAGTGGAGGCCGCTCGCCC (p.Pro397_Asp398insAsnAlaHisSerGlyGlyArgSerPro)	RBMXL3, LRCH2	Insertion (inframe_insertion +1 more)	not provided	GLikely benign
Select item 2661232	NM_001145346.2(RBMXL3):c.921C>T (p.Tyr307=)	LRCH2, RBMXL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2661231	NM_001145346.2(RBMXL3):c.362C>T (p.Pro121Leu)	LRCH2, RBMXL3 (P121L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2618804	NM_001145346.2(RBMXL3):c.1109G>A (p.Arg370His)	LRCH2, RBMXL3 (R370H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616295	NM_001145346.2(RBMXL3):c.1048C>T (p.Pro350Ser)	LRCH2, RBMXL3 (P350S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613558	NM_001145346.2(RBMXL3):c.1676C>T (p.Ser559Leu)	LRCH2, RBMXL3 (S559L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612193	NM_001145346.2(RBMXL3):c.1655G>A (p.Arg552His)	LRCH2, RBMXL3 (R552H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607253	NM_001145346.2(RBMXL3):c.2439A>T (p.Arg813Ser)	LRCH2, RBMXL3 (R813S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599424	NM_001145346.2(RBMXL3):c.275G>A (p.Ser92Asn)	LRCH2, RBMXL3 (S92N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599022	NM_001145346.2(RBMXL3):c.2599C>T (p.Arg867Cys)	LRCH2, RBMXL3 (R867C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595941	NM_001145346.2(RBMXL3):c.2302A>T (p.Ser768Cys)	LRCH2, RBMXL3 (S768C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593632	NM_001145346.2(RBMXL3):c.1264C>T (p.Arg422Cys)	LRCH2, RBMXL3 (R422C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592056	NM_001145346.2(RBMXL3):c.950G>T (p.Trp317Leu)	LRCH2, RBMXL3 (W317L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590507	NM_001145346.2(RBMXL3):c.877G>A (p.Asp293Asn)	LRCH2, RBMXL3 (D293N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589426	NM_001145346.2(RBMXL3):c.1624G>A (p.Gly542Ser)	LRCH2, RBMXL3 (G542S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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