DIP2A[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3082419	NM_015151.4(DIP2A):c.27G>C (p.Glu9Asp)	DIP2A (E9D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652830	NM_015151.4(DIP2A):c.109G>A (p.Gly37Arg)	DIP2A (G37R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2377576	NM_015151.4(DIP2A):c.128C>G (p.Ala43Gly)	DIP2A (A43G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060043	NM_015151.4(DIP2A):c.174A>G (p.Pro58=)	DIP2A	Single nucleotide variant (synonymous variant)	DIP2A-related disorder	GBenign
Select item 3031750	NM_015151.4(DIP2A):c.189G>T (p.Glu63Asp)	DIP2A (E63D)	Single nucleotide variant (missense variant)	DIP2A-related disorder	GUncertain significance
Select item 2409858	NM_015151.4(DIP2A):c.193A>G (p.Arg65Gly)	DIP2A (R65G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516500	NM_015151.4(DIP2A):c.256G>A (p.Ala86Thr)	DIP2A (A86T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2311224	NM_015151.4(DIP2A):c.278G>T (p.Arg93Leu)	DIP2A (R93L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314904	NM_015151.4(DIP2A):c.371T>C (p.Val124Ala)	DIP2A (V124A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603202	NM_015151.4(DIP2A):c.377C>T (p.Ser126Leu)	DIP2A (S126L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652831	NM_015151.4(DIP2A):c.378G>A (p.Ser126=)	DIP2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2358573	NM_015151.4(DIP2A):c.440G>A (p.Arg147Gln)	DIP2A (R147Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600371	NM_015151.4(DIP2A):c.443G>A (p.Arg148Gln)	DIP2A (R148Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082429	NM_015151.4(DIP2A):c.458C>T (p.Thr153Ile)	DIP2A (T153I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570054	NM_015151.4(DIP2A):c.467C>T (p.Pro156Leu)	DIP2A (P156L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537437	NM_015151.4(DIP2A):c.516G>C (p.Gln172His)	DIP2A (Q172H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3272092	NM_015151.4(DIP2A):c.557A>C (p.His186Pro)	DIP2A (H186P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205624	NM_015151.4(DIP2A):c.623C>T (p.Ala208Val)	DIP2A (A208V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464379	NM_015151.4(DIP2A):c.694G>A (p.Val232Met)	DIP2A (V233M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487285	NM_015151.4(DIP2A):c.701A>G (p.His234Arg)	DIP2A (H151R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082430	NM_015151.4(DIP2A):c.704C>T (p.Ser235Leu)	DIP2A (S152L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082431	NM_015151.4(DIP2A):c.787G>A (p.Val263Ile)	DIP2A (V180I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3348463	NM_015151.4(DIP2A):c.842A>C (p.Lys281Thr)	DIP2A (K198T +3 more)	Single nucleotide variant (missense variant)	DIP2A-related disorder	GUncertain significance
Select item 2429832	NM_015151.4(DIP2A):c.850A>C (p.Lys284Gln)	DIP2A (K201Q +3 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2302129	NM_015151.4(DIP2A):c.854G>A (p.Arg285His)	DIP2A (R202H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463438	NM_015151.4(DIP2A):c.976A>C (p.Thr326Pro)	DIP2A (T283P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082432	NM_015151.4(DIP2A):c.995C>G (p.Pro332Arg)	DIP2A (P333R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361089	NM_015151.4(DIP2A):c.995C>T (p.Pro332Leu)	DIP2A (P328L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043705	NM_015151.4(DIP2A):c.998C>T (p.Pro333Leu)	DIP2A (P250L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781523	NM_015151.4(DIP2A):c.999G>A (p.Pro333=)	DIP2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2247099	NM_015151.4(DIP2A):c.1012A>G (p.Thr338Ala)	DIP2A (T338A +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 760984	NM_015151.4(DIP2A):c.1021C>T (p.Arg341Cys)	DIP2A (R337C +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3055869	NM_015151.4(DIP2A):c.1115G>A (p.Ser372Asn)	DIP2A (S289N +4 more)	Single nucleotide variant (missense variant)	DIP2A-related disorder	GBenign
Select item 2537602	NM_015151.4(DIP2A):c.1234A>G (p.Met412Val)	DIP2A (M408V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038865	NM_015151.4(DIP2A):c.1283T>C (p.Ile428Thr)	DIP2A (I345T +4 more)	Single nucleotide variant (missense variant)	DIP2A-related disorder	GLikely benign
Select item 2264300	NM_015151.4(DIP2A):c.1367C>T (p.Thr456Ile)	DIP2A (T373I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749967	NM_015151.4(DIP2A):c.1374C>T (p.Asp458=)	DIP2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2429948	NM_015151.4(DIP2A):c.1429+2T>G	DIP2A	Single nucleotide variant (splice donor variant)	Autism spectrum disorder	GLikely pathogenic
Select item 801425	NM_015151.4(DIP2A):c.1431T>G (p.Gly477=)	DIP2A	Single nucleotide variant (synonymous variant)	Long QT syndrome	GUncertain significance
Select item 2220164	NM_015151.4(DIP2A):c.1439C>T (p.Pro480Leu)	DIP2A (P481L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619912	NM_015151.4(DIP2A):c.1559G>A (p.Gly520Asp)	DIP2A (G477D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236710	NM_015151.4(DIP2A):c.1579G>C (p.Val527Leu)	DIP2A (V528L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360162	NM_015151.4(DIP2A):c.1609C>T (p.Arg537Trp)	DIP2A (R494W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082408	NM_015151.4(DIP2A):c.1610G>A (p.Arg537Gln)	DIP2A (R537Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 597276	NM_015151.4(DIP2A):c.1677G>A (p.Arg559=)	DIP2A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3052486	NM_015151.4(DIP2A):c.1707+7G>A	DIP2A	Single nucleotide variant (intron variant)	DIP2A-related disorder	GLikely benign
Select item 3052984	NM_015151.4(DIP2A):c.1708-5C>G	DIP2A	Single nucleotide variant (intron variant)	DIP2A-related disorder	GBenign
Select item 3353263	NM_015151.4(DIP2A):c.1804C>T (p.Arg602Trp)	DIP2A (R519W +4 more)	Single nucleotide variant (missense variant)	DIP2A-related disorder	GUncertain significance
Select item 3082409	NM_015151.4(DIP2A):c.1810G>A (p.Ala604Thr)	DIP2A (A521T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555264	NM_015151.4(DIP2A):c.1811C>T (p.Ala604Val)	DIP2A (A600V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082410	NM_015151.4(DIP2A):c.1831A>G (p.Met611Val)	DIP2A (M607V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246115	NM_015151.4(DIP2A):c.1870G>A (p.Val624Ile)	DIP2A (V581I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688931	NM_015151.4(DIP2A):c.1919C>T (p.Pro640Leu)	DIP2A (P557L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2518166	NM_015151.4(DIP2A):c.1960C>A (p.Gln654Lys)	DIP2A (Q571K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543788	NM_015151.4(DIP2A):c.2021C>T (p.Thr674Ile)	DIP2A (T675I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652832	NM_015151.4(DIP2A):c.2026G>A (p.Ala676Thr)	DIP2A (A593T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2264483	NM_015151.4(DIP2A):c.2042C>T (p.Pro681Leu)	DIP2A (P598L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060508	NM_015151.4(DIP2A):c.2079G>A (p.Leu693=)	DIP2A	Single nucleotide variant (synonymous variant)	DIP2A-related disorder	GBenign
Select item 3053076	NM_015151.4(DIP2A):c.2088C>T (p.Asn696=)	DIP2A	Single nucleotide variant (synonymous variant)	DIP2A-related disorder	GLikely benign
Select item 2242884	NM_015151.4(DIP2A):c.2089G>A (p.Gly697Ser)	DIP2A (G693S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082411	NM_015151.4(DIP2A):c.2133G>T (p.Leu711Phe)	DIP2A (L668F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082412	NM_015151.4(DIP2A):c.2155G>A (p.Val719Ile)	DIP2A (V720I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514091	NM_015151.4(DIP2A):c.2169G>A (p.Met723Ile)	DIP2A (M724I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256863	NM_015151.4(DIP2A):c.2169G>C (p.Met723Ile)	DIP2A (M680I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082413	NM_015151.4(DIP2A):c.2221A>C (p.Lys741Gln)	DIP2A (K658Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272088	NM_015151.4(DIP2A):c.2270C>G (p.Thr757Arg)	DIP2A (T714R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298393	NM_015151.4(DIP2A):c.2301G>T (p.Lys767Asn)	DIP2A (K724N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272089	NM_015151.4(DIP2A):c.2321C>T (p.Pro774Leu)	DIP2A (P731L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035876	NM_015151.4(DIP2A):c.2388C>T (p.Ile796=)	DIP2A	Single nucleotide variant (synonymous variant)	DIP2A-related disorder	GBenign
Select item 3082414	NM_015151.4(DIP2A):c.2389G>A (p.Gly797Arg)	DIP2A (G793R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775120	NM_015151.4(DIP2A):c.2393C>T (p.Pro798Leu)	DIP2A (P755L +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2688928	NM_015151.4(DIP2A):c.2395-2A>G	DIP2A	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2253214	NM_015151.4(DIP2A):c.2428G>A (p.Gly810Arg)	DIP2A (G727R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233803	NM_015151.4(DIP2A):c.2438T>C (p.Val813Ala)	DIP2A (V809A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082415	NM_015151.4(DIP2A):c.2458A>G (p.Asn820Asp)	DIP2A (N820D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376408	NM_015151.4(DIP2A):c.2459A>G (p.Asn820Ser)	DIP2A (N816S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652833	NM_015151.4(DIP2A):c.2481C>T (p.Thr827=)	DIP2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2403792	NM_015151.4(DIP2A):c.2494G>A (p.Glu832Lys)	DIP2A (E749K +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 708063	NM_015151.4(DIP2A):c.2544C>T (p.Thr848=)	DIP2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3082416	NM_015151.4(DIP2A):c.2560C>T (p.Arg854Trp)	DIP2A (R854W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388772	NM_015151.4(DIP2A):c.2584C>T (p.Arg862Trp)	DIP2A (R858W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272093	NM_015151.4(DIP2A):c.2621T>C (p.Met874Thr)	DIP2A (M875T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406584	NM_015151.4(DIP2A):c.2626C>T (p.Arg876Cys)	DIP2A (R877C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 207922	NM_015151.4(DIP2A):c.2637+17G>A	DIP2A (R885Q)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GLikely benign
Select item 3353267	NM_015151.4(DIP2A):c.2637+25G>T	DIP2A (V888F)	Single nucleotide variant (missense variant +1 more)	DIP2A-related disorder	GUncertain significance
Select item 3043790	NM_015151.4(DIP2A):c.2637+29G>A	DIP2A (R889Q)	Single nucleotide variant (missense variant +1 more)	DIP2A-related disorder	GLikely benign
Select item 3082417	NM_015151.4(DIP2A):c.2684T>C (p.Val895Ala)	DIP2A (V891A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688932	NM_015151.4(DIP2A):c.2710C>T (p.Pro904Ser)	DIP2A (P900S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2325548	NM_015151.4(DIP2A):c.2722A>G (p.Ile908Val)	DIP2A (I908V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235089	NM_015151.4(DIP2A):c.2746C>T (p.Arg916Cys)	DIP2A (R917C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455514	NM_015151.4(DIP2A):c.2762C>T (p.Thr921Met)	DIP2A (T917M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3060086	NM_015151.4(DIP2A):c.2763G>A (p.Thr921=)	DIP2A	Single nucleotide variant (synonymous variant)	DIP2A-related disorder	GBenign
Select item 3082418	NM_015151.4(DIP2A):c.2785A>T (p.Met929Leu)	DIP2A (M925L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060466	NM_015151.4(DIP2A):c.2840-8G>A	DIP2A	Single nucleotide variant (intron variant)	DIP2A-related disorder	GBenign
Select item 2510509	NM_015151.4(DIP2A):c.2863G>A (p.Val955Met)	DIP2A (V955M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053656	NM_015151.4(DIP2A):c.2878G>T (p.Ala960Ser)	DIP2A (A956S +2 more)	Single nucleotide variant (missense variant)	DIP2A-related disorder	GLikely benign
Select item 2374803	NM_015151.4(DIP2A):c.2917G>A (p.Ala973Thr)	DIP2A (A969T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082421	NM_015151.4(DIP2A):c.2935G>A (p.Asp979Asn)	DIP2A (D975N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247485	NM_015151.4(DIP2A):c.2945G>A (p.Arg982Gln)	DIP2A (R978Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082422	NM_015151.4(DIP2A):c.3041C>A (p.Thr1014Lys)	DIP2A (T1014K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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