ClinVar for Gene (Select 4010) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373650	NM_001174147.2(LMX1B):c.741+3G>C	LMX1B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3370317	NM_001174147.2(LMX1B):c.662G>A (p.Arg221Gln)	LMX1B (R221Q)	Single nucleotide variant (missense variant)	Nail-patella-like renal disease	GUncertain significance
Select item 3360997	NM_001174147.2(LMX1B):c.560-9C>G	LMX1B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3360996	NM_001174147.2(LMX1B):c.61_63dup (p.Cys21_Ala22insCys)	LMX1B	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3358861	NM_001174147.2(LMX1B):c.755T>A (p.Leu252Gln)	LMX1B (L252Q)	Single nucleotide variant (missense variant)	Nail-patella syndrome	GLikely pathogenic
Select item 3351536	NM_001174147.2(LMX1B):c.835C>T (p.Arg279Trp)	LMX1B (R279W)	Single nucleotide variant (missense variant)	LMX1B-related disorder	GUncertain significance
Select item 3340278	NM_001174147.2(LMX1B):c.313C>T (p.Gln105Ter)	LMX1B (Q105*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3339955	NM_001174147.2(LMX1B):c.683C>T (p.Thr228Met)	LMX1B (T228M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3337218	NM_001174147.2(LMX1B):c.326_326+1del	LMX1B	Deletion (splice donor variant)	not provided	GPathogenic
Select item 3252543	NM_001174147.2(LMX1B):c.751A>G (p.Thr251Ala)	LMX1B (T251A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3245311	NC_000009.11:g.(?_129454289)_(129455424_?)del	LMX1B	Deletion	not provided	GPathogenic
Select item 3245310	NC_000009.11:g.(?_129455401)_(129456111_?)del	LMX1B	Deletion	not provided	GPathogenic
Select item 3245309	NC_000009.11:g.(?_129453350)_(129455624_?)del	LMX1B	Deletion	not provided	GPathogenic
Select item 3236102	NM_001174147.2(LMX1B):c.224C>T (p.Ser75Phe)	LMX1B (S75F)	Single nucleotide variant (missense variant)	Nail-patella-like renal disease	GUncertain significance
Select item 3235977	NM_001174147.2(LMX1B):c.389G>A (p.Arg130Gln)	LMX1B (R130Q)	Single nucleotide variant (missense variant)	Nail-patella-like renal disease	GUncertain significance
Select item 3119456	NM_001174147.2(LMX1B):c.833C>A (p.Ala278Glu)	LMX1B (A278E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119455	NM_001174147.2(LMX1B):c.266C>T (p.Ala89Val)	LMX1B (A89V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119454	NM_001174147.2(LMX1B):c.20C>G (p.Pro7Arg)	LMX1B (P7R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119453	NM_001174147.2(LMX1B):c.140G>C (p.Gly47Ala)	LMX1B (G47A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068346	NM_001174147.2(LMX1B):c.957del (p.Ile319fs)	LMX1B (I319fs +1 more)	Deletion (frameshift variant)	Nail-patella-like renal disease	GLikely pathogenic
Select item 3067825	NM_001174147.2(LMX1B):c.1100G>A (p.Ser367Asn)	LMX1B (S360N +2 more)	Single nucleotide variant (missense variant)	Nail-patella syndrome	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3054352	NM_001174147.2(LMX1B):c.340A>T (p.Lys114Ter)	LMX1B (K114*)	Single nucleotide variant (nonsense)	LMX1B-related disorder	GPathogenic
Select item 3048791	NM_001174147.2(LMX1B):c.990C>T (p.Ser330=)	LMX1B	Single nucleotide variant (synonymous variant)	LMX1B-related disorder	GLikely benign
Select item 3044866	NM_001174147.2(LMX1B):c.886+38G>A	LMX1B	Single nucleotide variant (intron variant)	LMX1B-related disorder	GBenign
Select item 3044856	NM_001174147.2(LMX1B):c.886+17G>T	LMX1B	Single nucleotide variant (synonymous variant +1 more)	LMX1B-related disorder	GLikely benign
Select item 3038309	NM_001174147.2(LMX1B):c.844del (p.Gln282fs)	LMX1B (Q282fs)	Deletion (frameshift variant)	LMX1B-related disorder	GLikely pathogenic
Select item 3038129	NM_001174147.2(LMX1B):c.232G>T (p.Glu78Ter)	LMX1B (E78*)	Single nucleotide variant (nonsense)	LMX1B-related disorder	GPathogenic
Select item 3036205	NM_001174147.2(LMX1B):c.668G>C (p.Arg223Pro)	LMX1B (R223P)	Single nucleotide variant (missense variant)	LMX1B-related disorder	GLikely pathogenic
Select item 3032111	NM_001174147.2(LMX1B):c.534C>T (p.Ser178=)	LMX1B	Single nucleotide variant (synonymous variant)	LMX1B-related disorder	GLikely benign
Select item 3020457	NM_001174147.2(LMX1B):c.560-20C>T	LMX1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020180	NM_001174147.2(LMX1B):c.1203C>T (p.Ala401=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012899	NM_001174147.2(LMX1B):c.807C>T (p.Asn269=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012198	NM_001174147.2(LMX1B):c.330C>G (p.Leu110=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008447	NM_001174147.2(LMX1B):c.741+13C>T	LMX1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998000	NM_001174147.2(LMX1B):c.976C>G (p.Pro326Ala)	LMX1B (P337A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992247	NM_001174147.2(LMX1B):c.335C>T (p.Ala112Val)	LMX1B (A112V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987706	NM_001174147.2(LMX1B):c.1139C>T (p.Ser380Phe)	LMX1B (S373F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985238	NM_001174147.2(LMX1B):c.742-14T>C	LMX1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975471	NM_001174147.2(LMX1B):c.82A>G (p.Ile28Val)	LMX1B (I28V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968964	NM_001174147.2(LMX1B):c.162C>T (p.Ala54=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962863	NM_001174147.2(LMX1B):c.585C>T (p.Asp195=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961441	NM_001174147.2(LMX1B):c.140-14C>T	LMX1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961278	NM_001174147.2(LMX1B):c.140-13C>T	LMX1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960106	NM_001174147.2(LMX1B):c.348C>T (p.Ser116=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959188	NM_001174147.2(LMX1B):c.1176C>G (p.Leu392=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2959083	NM_001174147.2(LMX1B):c.51G>A (p.Gly17=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957085	NM_001174147.2(LMX1B):c.768G>A (p.Thr256=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2914776	NM_001174147.2(LMX1B):c.507C>T (p.Tyr169=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909464	NM_001174147.2(LMX1B):c.1197C>T (p.Tyr399=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902219	NM_001174147.2(LMX1B):c.327-5C>T	LMX1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2898921	NM_001174147.2(LMX1B):c.666C>T (p.Pro222=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881766	NM_001174147.2(LMX1B):c.209G>A (p.Arg70Gln)	LMX1B (R70Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881602	NM_001174147.2(LMX1B):c.403G>A (p.Val135Met)	LMX1B (V135M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873007	NM_001174147.2(LMX1B):c.224C>G (p.Ser75Cys)	LMX1B (S75C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867948	NM_001174147.2(LMX1B):c.369C>G (p.Ala123=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854672	NM_001174147.2(LMX1B):c.679_680del (p.Thr227fs)	LMX1B (T227fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2830196	NM_001174147.2(LMX1B):c.888G>T (p.Glu296Asp)	LMX1B (E296D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2828948	NM_001174147.2(LMX1B):c.776dup (p.Ser259fs)	LMX1B (S259fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2826708	NM_001174147.2(LMX1B):c.253G>T (p.Ala85Ser)	LMX1B (A85S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2825942	NM_001174147.2(LMX1B):c.600_604dup (p.Gln202fs)	LMX1B (Q202fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2824157	NC_000009.12:g.126615383del	LMX1B	Deletion	not provided	GPathogenic
Select item 2820779	NM_001174147.2(LMX1B):c.271_272del (p.Thr91fs)	LMX1B (T91fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2816338	NM_001174147.2(LMX1B):c.140-5T>C	LMX1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2815294	NM_001174147.2(LMX1B):c.193G>T (p.Asp65Tyr)	LMX1B (D65Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811535	NM_001174147.2(LMX1B):c.42C>T (p.Phe14=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806555	NM_001174147.2(LMX1B):c.553G>A (p.Asp185Asn)	LMX1B (D185N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803851	NM_001174147.2(LMX1B):c.64G>A (p.Ala22Thr)	LMX1B (A22T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789420	NM_001174147.2(LMX1B):c.1007G>A (p.Gly336Asp)	LMX1B (G336D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2776723	NM_001174147.2(LMX1B):c.1108G>A (p.Asp370Asn)	LMX1B (D363N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2764790	NM_001174147.2(LMX1B):c.262C>T (p.Gln88Ter)	LMX1B (Q88*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2764771	NM_001174147.2(LMX1B):c.140-12T>G	LMX1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2762805	NM_001174147.2(LMX1B):c.103C>T (p.Leu35=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2754663	NM_001174147.2(LMX1B):c.209del (p.Arg70fs)	LMX1B (R70fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2754215	NM_001174147.2(LMX1B):c.1107C>A (p.Ser369Arg)	LMX1B (S373R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2744667	NM_001174147.2(LMX1B):c.801del (p.Gln268fs)	LMX1B (Q268fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2735339	NM_001174147.2(LMX1B):c.820-1G>A	LMX1B	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2735338	NM_001174147.2(LMX1B):c.788T>C (p.Val263Ala)	LMX1B (V263A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2735334	NM_001174147.2(LMX1B):c.437G>A (p.Cys146Tyr)	LMX1B (C146Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2735332	NM_001174147.2(LMX1B):c.326+1G>A	LMX1B	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2735331	NM_001174147.2(LMX1B):c.317A>C (p.Asp106Ala)	LMX1B (D106A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2735328	NM_001174147.2(LMX1B):c.247T>C (p.Cys83Arg)	LMX1B (C83R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2735326	NM_001174147.2(LMX1B):c.140-1G>A	LMX1B	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2726632	NM_001174147.2(LMX1B):c.507C>G (p.Tyr169Ter)	LMX1B (Y169*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2719887	NM_001174147.2(LMX1B):c.267C>A (p.Ala89=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2717632	NM_001174147.2(LMX1B):c.319T>G (p.Tyr107Asp)	LMX1B (Y107D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2717169	NM_001174147.2(LMX1B):c.479_486del (p.Glu160fs)	LMX1B (E160fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2705569	NM_001174147.2(LMX1B):c.436T>C (p.Cys146Arg)	LMX1B (C146R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2702308	NM_001174147.2(LMX1B):c.674T>G (p.Ile225Ser)	LMX1B (I225S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2699625	NM_001174147.2(LMX1B):c.746G>T (p.Arg249Leu)	LMX1B (R249L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2694941	NM_001174147.2(LMX1B):c.256T>A (p.Cys86Ser)	LMX1B (C86S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2659498	NM_001174147.2(LMX1B):c.462C>T (p.Asp154=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637401	NM_001174147.2(LMX1B):c.982G>A (p.Gly328Ser)	LMX1B (G328S +1 more)	Single nucleotide variant (missense variant)	LMX1B-related disorder	GUncertain significance
Select item 2636986	NM_001174147.2(LMX1B):c.221C>A (p.Ser74Ter)	LMX1B (S74*)	Single nucleotide variant (nonsense)	LMX1B-related disorder	GPathogenic
Select item 2635296	NM_001174147.2(LMX1B):c.597_598dup (p.Lys200fs)	LMX1B (K200fs)	Duplication (frameshift variant)	LMX1B-related disorder	GPathogenic
Select item 2632288	NM_001174147.2(LMX1B):c.327-1G>A	LMX1B	Single nucleotide variant (splice acceptor variant)	LMX1B-related disorder	GLikely pathogenic
Select item 2630445	NM_001174147.2(LMX1B):c.58G>A (p.Asp20Asn)	LMX1B (D20N)	Single nucleotide variant (missense variant)	LMX1B-related disorder +1 more	GUncertain significance
Select item 2628831	NM_001174147.2(LMX1B):c.667C>T (p.Arg223Trp)	LMX1B (R223W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2572003	NM_001174147.2(LMX1B):c.871C>T (p.Gln291Ter)	LMX1B (Q291*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2556282	NM_001174147.2(LMX1B):c.373A>G (p.Thr125Ala)	LMX1B (T125A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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