26057[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 148549	GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1	ADAMTS3, AFM +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	BMP2K, LOC111832670 +330 more	Deletion	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 58031	GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3	ADAMTS3, AFM +166 more	Copy number gain	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 150729	GRCh38/hg38 4q13.3(chr4:72888410-73179113)x3	ANKRD17, COX18 +2 more	Copy number gain	See cases	GLikely benign
Select item 151728	GRCh38/hg38 4q13.3(chr4:72953320-73179066)x3	ANKRD17, COX18 +2 more	Copy number gain	See cases	GUncertain significance
Select item 146971	GRCh38/hg38 4q13.3(chr4:72953350-73179096)x3	ANKRD17, COX18 +2 more	Copy number gain	See cases	GBenign
Select item 2320055	NM_032217.5(ANKRD17):c.7803G>C (p.Gln2601His)	ANKRD17 (Q2488H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2502359	NM_032217.5(ANKRD17):c.7799A>G (p.Asn2600Ser)	ANKRD17 (N2349S +3 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GUncertain significance
Select item 2323419	NM_032217.5(ANKRD17):c.7778A>G (p.His2593Arg)	ANKRD17 (H2342R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044401	NM_032217.5(ANKRD17):c.7765C>G (p.Pro2589Ala)	ANKRD17 (P2338A +3 more)	Single nucleotide variant (missense variant)	ANKRD17-related disorder	GLikely benign
Select item 2401813	NM_032217.5(ANKRD17):c.7765C>A (p.Pro2589Thr)	ANKRD17 (P2476T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3123702	NM_032217.5(ANKRD17):c.7744C>A (p.Pro2582Thr)	ANKRD17 (P2331T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 430719	NM_032217.5(ANKRD17):c.7731G>A (p.Thr2577=)	ANKRD17	Single nucleotide variant (synonymous variant)	Lip and oral cavity carcinoma	Gassociation
Select item 1805225	NM_032217.5(ANKRD17):c.7729A>C (p.Thr2577Pro)	ANKRD17 (T2326P +3 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome +1 more	GUncertain significance
Select item 3296539	NM_032217.5(ANKRD17):c.7715T>C (p.Met2572Thr)	ANKRD17 (M2459T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1710407	NM_032217.5(ANKRD17):c.7664T>C (p.Ile2555Thr)	ANKRD17 (I2304T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3254702	NM_032217.5(ANKRD17):c.7504C>T (p.Arg2502Ter)	ANKRD17 (R2251* +3 more)	Single nucleotide variant (nonsense)	Chopra-Amiel-Gordon syndrome	GPathogenic
Select item 2541244	NM_032217.5(ANKRD17):c.7470C>A (p.Asp2490Glu)	ANKRD17 (D2377E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2572563	NM_032217.5(ANKRD17):c.7448_7454del (p.Met2483fs)	ANKRD17 (M2232fs +3 more)	Deletion (frameshift variant)	Chopra-Amiel-Gordon syndrome	GLikely pathogenic
Select item 1328170	NM_032217.5(ANKRD17):c.7454A>C (p.His2485Pro)	ANKRD17 (H2234P +3 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GUncertain significance
Select item 2632899	NM_032217.5(ANKRD17):c.7409A>G (p.Asp2470Gly)	ANKRD17 (D2219G +3 more)	Single nucleotide variant (missense variant)	ANKRD17-related disorder	GUncertain significance
Select item 2637705	NM_032217.5(ANKRD17):c.7408+15C>T	ANKRD17	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3123694	NM_032217.5(ANKRD17):c.7403A>G (p.Asn2468Ser)	ANKRD17 (N2467S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621737	NM_032217.5(ANKRD17):c.7393A>T (p.Ile2465Phe)	ANKRD17 (I2464F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313828	NM_032217.5(ANKRD17):c.7354A>G (p.Thr2452Ala)	ANKRD17 (T2339A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2629916	NM_032217.5(ANKRD17):c.7338T>A (p.Ile2446=)	ANKRD17	Single nucleotide variant (synonymous variant)	ANKRD17-related disorder	GUncertain significance
Select item 2503146	NM_032217.5(ANKRD17):c.7311A>C (p.Gln2437His)	ANKRD17 (Q2186H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342987	NM_032217.5(ANKRD17):c.7300C>G (p.Arg2434Gly)	ANKRD17 (R2183G +3 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GLikely pathogenic
Select item 2200580	NM_032217.5(ANKRD17):c.7247A>G (p.Asn2416Ser)	ANKRD17 (N2303S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3123690	NM_032217.5(ANKRD17):c.7219G>A (p.Val2407Ile)	ANKRD17 (V2156I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3348317	NM_032217.5(ANKRD17):c.7207G>A (p.Ala2403Thr)	ANKRD17 (A2152T +3 more)	Single nucleotide variant (missense variant)	ANKRD17-related disorder	GUncertain significance
Select item 2466044	NM_032217.5(ANKRD17):c.7175C>T (p.Ser2392Leu)	ANKRD17 (S2141L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2576725	NM_032217.5(ANKRD17):c.7157A>G (p.Asn2386Ser)	ANKRD17 (N2135S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2613358	NM_032217.5(ANKRD17):c.7061C>T (p.Pro2354Leu)	ANKRD17 (P2241L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1690545	NM_032217.5(ANKRD17):c.7040C>T (p.Ser2347Leu)	ANKRD17 (S2096L +3 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2444528	NM_032217.5(ANKRD17):c.7019G>A (p.Gly2340Glu)	ANKRD17 (G2089E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3123683	NM_032217.5(ANKRD17):c.7014T>G (p.His2338Gln)	ANKRD17 (H2337Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462211	NM_032217.5(ANKRD17):c.6974T>C (p.Met2325Thr)	ANKRD17 (M2212T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2548397	NM_032217.5(ANKRD17):c.6967G>A (p.Val2323Ile)	ANKRD17 (V2210I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1710268	NM_032217.5(ANKRD17):c.6961+2T>C	ANKRD17	Single nucleotide variant (splice donor variant)	Chopra-Amiel-Gordon syndrome	GUncertain significance
Select item 2375840	NM_032217.5(ANKRD17):c.6847A>G (p.Met2283Val)	ANKRD17 (M2282V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463767	NM_032217.5(ANKRD17):c.6845C>G (p.Ser2282Cys)	ANKRD17 (S2169C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355348	NM_032217.5(ANKRD17):c.6838C>A (p.Pro2280Thr)	ANKRD17 (P2280T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263985	NM_032217.5(ANKRD17):c.6791C>T (p.Ser2264Phe)	ANKRD17 (S2263F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2672992	NM_032217.5(ANKRD17):c.6784C>T (p.Pro2262Ser)	ANKRD17 (P2011S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442129	NM_032217.5(ANKRD17):c.6719C>G (p.Pro2240Arg)	ANKRD17 (P1989R +3 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GLikely pathogenic
Select item 3123660	NM_032217.5(ANKRD17):c.6601G>A (p.Ala2201Thr)	ANKRD17 (A2200T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338261	NM_032217.5(ANKRD17):c.6575C>T (p.Ser2192Leu)	ANKRD17 (S2191L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338260	NM_032217.5(ANKRD17):c.6574T>C (p.Ser2192Pro)	ANKRD17 (S2079P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3123651	NM_032217.5(ANKRD17):c.6562C>T (p.Pro2188Ser)	ANKRD17 (P1937S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3123644	NM_032217.5(ANKRD17):c.6559G>C (p.Ala2187Pro)	ANKRD17 (A1936P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542213	NM_032217.5(ANKRD17):c.6454A>G (p.Thr2152Ala)	ANKRD17 (T2151A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504435	NM_032217.5(ANKRD17):c.6413C>T (p.Pro2138Leu)	ANKRD17 (P1887L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2511486	NM_032217.5(ANKRD17):c.6392C>T (p.Pro2131Leu)	ANKRD17 (P1880L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2654815	NM_032217.5(ANKRD17):c.6388C>G (p.Pro2130Ala)	ANKRD17 (P1879A +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2630807	NM_032217.5(ANKRD17):c.6388C>T (p.Pro2130Ser)	ANKRD17 (P1879S +3 more)	Single nucleotide variant (missense variant)	ANKRD17-related disorder	GUncertain significance
Select item 2511485	NM_032217.5(ANKRD17):c.6377C>G (p.Ser2126Cys)	ANKRD17 (S1875C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1355661	NM_032217.5(ANKRD17):c.6301A>G (p.Ser2101Gly)	ANKRD17 (S1988G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2599943	NM_032217.5(ANKRD17):c.6278C>T (p.Pro2093Leu)	ANKRD17 (P2092L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3296559	NM_032217.5(ANKRD17):c.6200C>G (p.Ser2067Cys)	ANKRD17 (S1816C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3346068	NM_032217.5(ANKRD17):c.6193T>G (p.Ser2065Ala)	ANKRD17 (S1814A +3 more)	Single nucleotide variant (missense variant)	ANKRD17-related disorder	GUncertain significance
Select item 2480199	NM_032217.5(ANKRD17):c.6164T>C (p.Val2055Ala)	ANKRD17 (V1804A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439101	NM_032217.5(ANKRD17):c.6160G>A (p.Gly2054Arg)	ANKRD17 (G1803R +3 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GUncertain significance
Select item 2534029	NM_032217.5(ANKRD17):c.6158G>A (p.Gly2053Glu)	ANKRD17 (G1802E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252455	NM_032217.5(ANKRD17):c.6152A>G (p.Gln2051Arg)	ANKRD17 (Q1800R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3047211	NM_032217.5(ANKRD17):c.5935A>G (p.Thr1979Ala)	ANKRD17 (T1728A +3 more)	Single nucleotide variant (missense variant)	ANKRD17-related disorder	GUncertain significance
Select item 2387226	NM_032217.5(ANKRD17):c.5920A>G (p.Ser1974Gly)	ANKRD17 (S1861G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3029112	NM_032217.5(ANKRD17):c.5911A>G (p.Thr1971Ala)	ANKRD17 (T1720A +3 more)	Single nucleotide variant (missense variant)	ANKRD17-related disorder	GUncertain significance
Select item 2629532	NM_032217.5(ANKRD17):c.5826G>C (p.Lys1942Asn)	ANKRD17 (K1691N +3 more)	Single nucleotide variant (missense variant)	ANKRD17-related disorder	GUncertain significance
Select item 2630761	NM_032217.5(ANKRD17):c.5824A>C (p.Lys1942Gln)	ANKRD17 (K1691Q +3 more)	Single nucleotide variant (missense variant)	ANKRD17-related disorder	GUncertain significance
Select item 1806660	NM_032217.5(ANKRD17):c.5768C>T (p.Thr1923Ile)	ANKRD17 (T1672I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 816890	NM_032217.5(ANKRD17):c.5756dup (p.Ala1920fs)	ANKRD17 (A1669fs +3 more)	Duplication (frameshift variant)	Intellectual disability	GLikely pathogenic
Select item 3123581	NM_032217.5(ANKRD17):c.5720G>T (p.Arg1907Met)	ANKRD17 (R1656M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251414	NM_032217.5(ANKRD17):c.5719A>G (p.Arg1907Gly)	ANKRD17 (R1656G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1342983	NM_032217.5(ANKRD17):c.5638T>C (p.Ser1880Pro)	ANKRD17 (S1629P +3 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GLikely pathogenic
Select item 1708813	NM_032217.5(ANKRD17):c.5591A>G (p.Lys1864Arg)	ANKRD17 (K1613R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1352389	NM_032217.5(ANKRD17):c.5576C>G (p.Ser1859Cys)	ANKRD17 (S1858C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2550024	NM_032217.5(ANKRD17):c.5552C>T (p.Ala1851Val)	ANKRD17 (A1851V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408764	NM_032217.5(ANKRD17):c.5518G>A (p.Val1840Ile)	ANKRD17 (V1839I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1325865	NM_032217.5(ANKRD17):c.5360_5363del (p.Gln1787fs)	ANKRD17 (Q1536fs +3 more)	Deletion (frameshift variant)	Chopra-Amiel-Gordon syndrome +1 more	GPathogenic
Select item 3063700	NM_032217.5(ANKRD17):c.5328-12dup	ANKRD17	Duplication (intron variant)	not specified	GLikely benign
Select item 3065335	NM_032217.5(ANKRD17):c.5135G>A (p.Arg1712His)	ANKRD17 (R1461H +3 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GUncertain significance
Select item 1704700	NM_032217.5(ANKRD17):c.5116A>C (p.Thr1706Pro)	ANKRD17 (T1455P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576081	NM_032217.5(ANKRD17):c.5069G>A (p.Cys1690Tyr)	ANKRD17 (C1439Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2324108	NM_032217.5(ANKRD17):c.5035A>G (p.Ile1679Val)	ANKRD17 (I1428V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2291864	NM_032217.5(ANKRD17):c.5021+3T>C	ANKRD17	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3123568	NM_032217.5(ANKRD17):c.4997C>G (p.Ser1666Cys)	ANKRD17 (S1415C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2654816	NM_032217.5(ANKRD17):c.4974A>G (p.Thr1658=)	ANKRD17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2601432	NM_032217.5(ANKRD17):c.4951A>G (p.Lys1651Glu)	ANKRD17 (K1538E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283342	NM_032217.5(ANKRD17):c.4922C>T (p.Ala1641Val)	ANKRD17 (A1640V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537291	NM_032217.5(ANKRD17):c.4913A>G (p.His1638Arg)	ANKRD17 (H1638R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3296507	NM_032217.5(ANKRD17):c.4898G>A (p.Arg1633His)	ANKRD17 (R1382H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365799	NM_032217.5(ANKRD17):c.4862G>A (p.Ser1621Asn)	ANKRD17 (S1370N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3123538	NM_032217.5(ANKRD17):c.4845T>A (p.Asp1615Glu)	ANKRD17 (D1615E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1333233	NM_032217.5(ANKRD17):c.4828G>T (p.Glu1610Ter)	ANKRD17 (E1359* +3 more)	Single nucleotide variant (nonsense)	Chopra-Amiel-Gordon syndrome	GLikely pathogenic
Select item 3123528	NM_032217.5(ANKRD17):c.4757A>G (p.Asp1586Gly)	ANKRD17 (D1473G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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