DPF2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152827	GRCh38/hg38 11q13.1(chr11:65327786-65626431)x3	DPF2, EHBP1L1 +80 more	Copy number gain	See cases	GUncertain significance
Select item 1262262	NC_000011.10:g.65333844C>G	DPF2	Single nucleotide variant	not provided	GBenign
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 1409220	NM_006268.5(DPF2):c.9T>G (p.Ala3=)	DPF2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 1632492	NM_006268.5(DPF2):c.21T>C (p.Asn7=)	DPF2	Single nucleotide variant (synonymous variant)	DPF2-related disorder +1 more	GBenign/Likely benign
Select item 1343174	NM_006268.5(DPF2):c.23T>C (p.Val8Ala)	DPF2 (V8A)	Single nucleotide variant (missense variant)	Developmental disorder	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 2896758	NM_006268.5(DPF2):c.30G>A (p.Lys10=)	DPF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2177930	NM_006268.5(DPF2):c.32+3G>A	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 1643469	NM_006268.5(DPF2):c.32+15C>A	DPF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1951570	NM_006268.5(DPF2):c.32+20_32+23del	DPF2	Microsatellite (intron 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 1534963	NM_006268.5(DPF2):c.33-13A>G	DPF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976720	NM_006268.5(DPF2):c.39G>A (p.Gly13=)	DPF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992704	NM_006268.5(DPF2):c.51C>T (p.Tyr17=)	DPF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1589308	NM_006268.5(DPF2):c.90C>T (p.Arg30=)	DPF2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 2764894	NM_006268.5(DPF2):c.113G>A (p.Arg38His)	DPF2 (R38H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015394	NM_006268.5(DPF2):c.138C>T (p.Thr46=)	DPF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2044861	NM_006268.5(DPF2):c.152G>A (p.Ser51Asn)	DPF2 (S51N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1969301	NM_006268.5(DPF2):c.155A>G (p.Asn52Ser)	DPF2 (N52S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2910615	NM_006268.5(DPF2):c.194-8T>C	DPF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1374397	NM_006268.5(DPF2):c.194-3C>A	DPF2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 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 2498517	NM_006268.5(DPF2):c.204C>T (p.Ser68=)	DPF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1644323	NM_006268.5(DPF2):c.234C>G (p.Arg78=)	DPF2	Single nucleotide variant (synonymous 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 1603274	NM_006268.5(DPF2):c.248G>A (p.Arg83Gln)	DPF2 (R83Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1312259	NM_006268.5(DPF2):c.248G>C (p.Arg83Pro)	DPF2 (R83P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413952	NM_006268.5(DPF2):c.249G>A (p.Arg83=)	DPF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2165317	NM_006268.5(DPF2):c.260C>G (p.Pro87Arg)	DPF2 (P87R)	Single nucleotide variant (missense variant)	not provided	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 2957208	NM_006268.5(DPF2):c.292A>G (p.Ile98Val)	DPF2 (I98V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004671	NM_006268.5(DPF2):c.301+1del	DPF2	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 1530606	NM_006268.5(DPF2):c.301+3A>G	DPF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2177163	NM_006268.5(DPF2):c.301+7C>T	DPF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2036999	NM_006268.5(DPF2):c.301+8A>G	DPF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1639923	NM_006268.5(DPF2):c.302-11C>T	DPF2	Single nucleotide variant (intron variant)	Coffin-Siris syndrome 7 +1 more	GLikely benign
Select item 1544678	NM_006268.5(DPF2):c.302-8G>A	DPF2	Single nucleotide variant (intron variant)	DPF2-related disorder +1 more	GBenign/Likely benign
Select item 1621762	NM_006268.5(DPF2):c.302-7C>T	DPF2	Single nucleotide variant (intron 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 +1 more	GLikely benign
Select item 1952239	NM_006268.5(DPF2):c.330G>A (p.Gly110=)	DPF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1417031	NM_006268.5(DPF2):c.341A>G (p.Gln114Arg)	DPF2 (Q114R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 930733	NM_006268.5(DPF2):c.364C>G (p.Leu122Val)	DPF2 (L122V)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 7	GUncertain significance
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 2594760	NM_006268.5(DPF2):c.371G>A (p.Arg124His)	DPF2 (R124H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2700486	NM_006268.5(DPF2):c.382C>T (p.Leu128=)	DPF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2098639	NM_006268.5(DPF2):c.383T>G (p.Leu128Arg)	DPF2 (L128R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 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 2159142	NM_006268.5(DPF2):c.397G>A (p.Ala133Thr)	DPF2 (A133T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1374936	NM_006268.5(DPF2):c.401C>T (p.Pro134Leu)	DPF2 (P134L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2880802	NM_006268.5(DPF2):c.422A>G (p.Asp141Gly)	DPF2 (D141G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2231512	NM_006268.5(DPF2):c.440C>T (p.Pro147Leu)	DPF2 (P147L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1695535	NM_006268.5(DPF2):c.451A>G (p.Ser151Gly)	DPF2 (S151G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1405418	NM_006268.5(DPF2):c.452G>C (p.Ser151Thr)	DPF2 (S151T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1413258	NM_006268.5(DPF2):c.455G>A (p.Arg152Gln)	DPF2 (R152Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2185303	NM_006268.5(DPF2):c.459G>A (p.Ala153=)	DPF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1593777	NM_006268.5(DPF2):c.465+5A>G	DPF2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1265315	NM_006268.5(DPF2):c.465+200A>C	DPF2	Single nucleotide variant (intron variant)	not provided	GBenign
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 3057850	NM_006268.5(DPF2):c.501C>T (p.Leu167=)	DPF2	Single nucleotide variant (synonymous variant)	DPF2-related disorder	GLikely benign
Select item 3004578	NM_006268.5(DPF2):c.502G>A (p.Asp168Asn)	DPF2 (D168N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1803136	NM_006268.5(DPF2):c.508G>C (p.Glu170Gln)	DPF2 (E170Q)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 7	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 2299406	NM_006268.5(DPF2):c.514_516dup (p.Tyr172_Glu173insTyr)	DPF2	Duplication (inframe_insertion)	Inborn genetic diseases	GUncertain significance
Select item 2101200	NM_006268.5(DPF2):c.516T>C (p.Tyr172=)	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 1804469	NM_006268.5(DPF2):c.538C>T (p.Arg180Trp)	DPF2 (R180W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800509	NM_006268.5(DPF2):c.558G>A (p.Lys186=)	DPF2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1646778	NM_006268.5(DPF2):c.558+14G>A	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 1564016	NM_006268.5(DPF2):c.558+19G>A	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 3004333	NM_006268.5(DPF2):c.559-9T>C	DPF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2035041	NM_006268.5(DPF2):c.564G>A (p.Lys188=)	DPF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2172439	NM_006268.5(DPF2):c.566G>T (p.Gly189Val)	DPF2 (G189V)	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 985546	NM_006268.5(DPF2):c.601A>C (p.Ile201Leu)	DPF2 (I201L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2991560	NM_006268.5(DPF2):c.637+13C>T	DPF2	Single nucleotide variant (intron variant)	not provided	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 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 3006478	NM_006268.5(DPF2):c.638-18A>G	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 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 3022847	NM_006268.5(DPF2):c.669C>T (p.Gly223=)	DPF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1309449	NM_006268.5(DPF2):c.711G>C (p.Glu237Asp)	DPF2 (E237D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004515	NM_006268.5(DPF2):c.714C>T (p.Gly238=)	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 1675460	NM_006268.5(DPF2):c.729C>T (p.Asp243=)	DPF2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

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