ClinVar for Gene (Select 5977) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366173	NM_006268.5(DPF2):c.649C>T (p.Arg217Cys)	DPF2 (R217C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365846	NM_006268.5(DPF2):c.1000G>A (p.Gly334Ser)	DPF2 (G334S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361504	NM_006268.5(DPF2):c.536G>A (p.Arg179His)	DPF2 (R179H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360247	NM_006268.5(DPF2):c.763G>C (p.Glu255Gln)	DPF2 (E255Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359672	NM_006268.5(DPF2):c.616G>C (p.Asp206His)	DPF2 (D206H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3357980	NM_006268.5(DPF2):c.359A>G (p.Glu120Gly)	DPF2 (E120G)	Single nucleotide variant (missense variant)	DPF2-related disorder	GUncertain significance
Select item 3351668	NM_006268.5(DPF2):c.37G>A (p.Gly13Arg)	DPF2 (G13R)	Single nucleotide variant (missense variant)	DPF2-related disorder	GUncertain significance
Select item 3342037	NM_006268.5(DPF2):c.515A>G (p.Tyr172Cys)	DPF2 (Y172C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3273576	NM_006268.5(DPF2):c.77A>G (p.Asn26Ser)	DPF2 (N26S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273575	NM_006268.5(DPF2):c.332T>C (p.Leu111Pro)	DPF2 (L111P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3254756	NM_006268.5(DPF2):c.733C>G (p.Gln245Glu)	DPF2 (Q245E +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 7	GUncertain significance
Select item 3252679	NM_006268.5(DPF2):c.868G>A (p.Glu290Lys)	DPF2 (E290K +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3252410	NM_006268.5(DPF2):c.973A>G (p.Ile325Val)	DPF2 (I325V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3085449	NM_006268.5(DPF2):c.596C>T (p.Ala199Val)	DPF2 (A199V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085448	NM_006268.5(DPF2):c.511G>A (p.Asp171Asn)	DPF2 (D171N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085447	NM_006268.5(DPF2):c.421G>A (p.Asp141Asn)	DPF2 (D141N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085446	NM_006268.5(DPF2):c.205G>A (p.Gly69Arg)	DPF2 (G69R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064790	NM_006268.5(DPF2):c.970T>G (p.Cys324Gly)	DPF2 (C324G +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 7	GLikely pathogenic
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3057850	NM_006268.5(DPF2):c.501C>T (p.Leu167=)	DPF2	Single nucleotide variant (synonymous variant)	DPF2-related disorder	GLikely benign
Select item 3051210	NM_006268.5(DPF2):c.637+541C>T	DPF2 (A223V)	Single nucleotide variant (missense variant +1 more)	DPF2-related disorder	GLikely benign
Select item 3045910	NM_006268.5(DPF2):c.105C>T (p.Arg35=)	DPF2	Single nucleotide variant (synonymous variant)	DPF2-related disorder	GLikely benign
Select item 3026482	NM_006268.5(DPF2):c.637+139G>A	DPF2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3024843	NM_006268.5(DPF2):c.637+340C>T	DPF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023376	NM_006268.5(DPF2):c.559-18C>T	DPF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023258	NM_006268.5(DPF2):c.558+18T>C	DPF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022847	NM_006268.5(DPF2):c.669C>T (p.Gly223=)	DPF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015394	NM_006268.5(DPF2):c.138C>T (p.Thr46=)	DPF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011787	NM_006268.5(DPF2):c.744T>C (p.Thr248=)	DPF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006478	NM_006268.5(DPF2):c.638-18A>G	DPF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005541	NM_006268.5(DPF2):c.24A>C (p.Val8=)	DPF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004671	NM_006268.5(DPF2):c.301+1del	DPF2	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 3004578	NM_006268.5(DPF2):c.502G>A (p.Asp168Asn)	DPF2 (D168N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3004515	NM_006268.5(DPF2):c.714C>T (p.Gly238=)	DPF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004333	NM_006268.5(DPF2):c.559-9T>C	DPF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000890	NM_006268.5(DPF2):c.776-15T>G	DPF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996957	NM_006268.5(DPF2):c.944C>T (p.Ala315Val)	DPF2 (A315V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992704	NM_006268.5(DPF2):c.51C>T (p.Tyr17=)	DPF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991560	NM_006268.5(DPF2):c.637+13C>T	DPF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989648	NM_006268.5(DPF2):c.1017+13G>A	DPF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989161	NM_006268.5(DPF2):c.1095T>C (p.Pro365=)	DPF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988453	NM_006268.5(DPF2):c.904+12C>T	DPF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987691	NM_006268.5(DPF2):c.999C>T (p.Cys333=)	DPF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984431	NM_006268.5(DPF2):c.518A>G (p.Glu173Gly)	DPF2 (E173G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982028	NM_006268.5(DPF2):c.374C>T (p.Thr125Ile)	DPF2 (T125I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977365	NM_006268.5(DPF2):c.776-19A>G	DPF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976948	NM_006268.5(DPF2):c.499C>T (p.Leu167Phe)	DPF2 (L167F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976720	NM_006268.5(DPF2):c.39G>A (p.Gly13=)	DPF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974675	NM_006268.5(DPF2):c.858G>A (p.Thr286=)	DPF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972683	NM_006268.5(DPF2):c.1094C>G (p.Pro365Arg)	DPF2 (P365R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972380	NM_006268.5(DPF2):c.1017+12C>T	DPF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968966	NM_006268.5(DPF2):c.247C>T (p.Arg83Trp)	DPF2 (R83W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961895	NM_006268.5(DPF2):c.1077G>A (p.Pro359=)	DPF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958497	NM_006268.5(DPF2):c.1018-16C>T	DPF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957208	NM_006268.5(DPF2):c.292A>G (p.Ile98Val)	DPF2 (I98V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2910615	NM_006268.5(DPF2):c.194-8T>C	DPF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2903839	NM_006268.5(DPF2):c.912A>G (p.Pro304=)	DPF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896758	NM_006268.5(DPF2):c.30G>A (p.Lys10=)	DPF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880802	NM_006268.5(DPF2):c.422A>G (p.Asp141Gly)	DPF2 (D141G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876946	NM_006268.5(DPF2):c.961C>G (p.Arg321Gly)	DPF2 (R321G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875439	NM_006268.5(DPF2):c.904+13G>T	DPF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871620	NM_006268.5(DPF2):c.638-5C>T	DPF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858441	NM_006268.5(DPF2):c.912A>C (p.Pro304=)	DPF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847897	NM_006268.5(DPF2):c.32+19C>T	DPF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2824564	NM_006268.5(DPF2):c.1018-16CT[3]	DPF2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2813492	NM_006268.5(DPF2):c.185G>A (p.Arg62Gln)	DPF2 (R62Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2808984	NM_006268.5(DPF2):c.370C>T (p.Arg124Cys)	DPF2 (R124C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795851	NM_006268.5(DPF2):c.743C>T (p.Thr248Ile)	DPF2 (T262I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2784239	NM_006268.5(DPF2):c.1017+18C>T	DPF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778980	NM_006268.5(DPF2):c.32+11G>C	DPF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2771787	NM_006268.5(DPF2):c.647A>G (p.Lys216Arg)	DPF2 (K216R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2764894	NM_006268.5(DPF2):c.113G>A (p.Arg38His)	DPF2 (R38H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2744611	NM_006268.5(DPF2):c.1176A>C (p.Ter392Cys)	DPF2	Single nucleotide variant (stop lost)	not provided	GLikely benign
Select item 2722024	NM_006268.5(DPF2):c.861A>G (p.Gly287=)	DPF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715145	NM_006268.5(DPF2):c.306A>G (p.Thr102=)	DPF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711162	NM_006268.5(DPF2):c.718G>T (p.Asp240Tyr)	DPF2 (D254Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2705017	NM_006268.5(DPF2):c.68A>T (p.Gln23Leu)	DPF2 (Q23L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700486	NM_006268.5(DPF2):c.382C>T (p.Leu128=)	DPF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2692754	NM_006268.5(DPF2):c.1059C>T (p.His353=)	DPF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684648	GRCh37/hg19 11q13.1(chr11:64573225-65193732)x3	GPHA2, POLA2 +29 more	Copy number gain	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2632651	NM_006268.5(DPF2):c.19A>G (p.Asn7Asp)	DPF2 (N7D)	Single nucleotide variant (missense variant)	DPF2-related disorder	GUncertain significance
Select item 2594760	NM_006268.5(DPF2):c.371G>A (p.Arg124His)	DPF2 (R124H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580734	NM_006268.5(DPF2):c.1076C>T (p.Pro359Leu)	DPF2 (P359L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576065	NM_006268.5(DPF2):c.745C>G (p.Pro249Ala)	DPF2 (P249A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504822	NM_006268.5(DPF2):c.760T>A (p.Ser254Thr)	DPF2 (S254T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498517	NM_006268.5(DPF2):c.204C>T (p.Ser68=)	DPF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2467519	NM_006268.5(DPF2):c.458C>T (p.Ala153Val)	DPF2 (A153V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2442163	NM_006268.5(DPF2):c.1094dup (p.Pro365_Glu366insTer)	DPF2	Duplication (frameshift variant)	Coffin-Siris syndrome 7	GLikely pathogenic
Select item 2441022	NM_006268.5(DPF2):c.203C>A (p.Ser68Tyr)	DPF2 (S68Y)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 7	GUncertain significance
Select item 2441021	NM_006268.5(DPF2):c.397G>C (p.Ala133Pro)	DPF2 (A133P)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 7	GUncertain significance
Select item 2429902	NM_006268.5(DPF2):c.8C>G (p.Ala3Gly)	DPF2 (A3G)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 2421651	NM_006268.5(DPF2):c.829C>T (p.Leu277=)	DPF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2413952	NM_006268.5(DPF2):c.249G>A (p.Arg83=)	DPF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2412975	NM_006268.5(DPF2):c.198G>C (p.Leu66Phe)	DPF2 (L66F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2331704	NM_006268.5(DPF2):c.389A>G (p.Lys130Arg)	DPF2 (K130R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316947	NM_006268.5(DPF2):c.785G>T (p.Gly262Val)	DPF2 (G262V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304547	NM_006268.5(DPF2):c.286C>A (p.Pro96Thr)	DPF2 (P96T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299406	NM_006268.5(DPF2):c.514_516dup (p.Tyr172_Glu173insTyr)	DPF2	Duplication (inframe_insertion)	Inborn genetic diseases	GUncertain significance

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