"Ambry Genetics"[submitter] AND "CHD6"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2241750	NM_032221.5(CHD6):c.8137G>T (p.Asp2713Tyr)	CHD6 (D2713Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285092	NM_032221.5(CHD6):c.8116G>A (p.Ala2706Thr)	CHD6 (A2706T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144189	NM_032221.5(CHD6):c.7997A>G (p.Asn2666Ser)	CHD6 (N2666S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522123	NM_032221.5(CHD6):c.7976A>C (p.Lys2659Thr)	CHD6 (K2659T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474786	NM_032221.5(CHD6):c.7897G>A (p.Gly2633Ser)	CHD6 (G2633S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241254	NM_032221.5(CHD6):c.7895T>C (p.Met2632Thr)	CHD6 (M2632T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144188	NM_032221.5(CHD6):c.7888C>G (p.Pro2630Ala)	CHD6 (P2630A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266876	NM_032221.5(CHD6):c.7878G>A (p.Met2626Ile)	CHD6 (M2626I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491183	NM_032221.5(CHD6):c.7592T>C (p.Met2531Thr)	CHD6 (M2531T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266875	NM_032221.5(CHD6):c.7564C>G (p.Leu2522Val)	CHD6 (L2522V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408527	NM_032221.5(CHD6):c.7404C>A (p.Phe2468Leu)	CHD6 (F2468L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144187	NM_032221.5(CHD6):c.7360C>T (p.Pro2454Ser)	CHD6 (P2454S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359738	NM_032221.5(CHD6):c.7340G>A (p.Arg2447Gln)	CHD6 (R2447Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364212	NM_032221.5(CHD6):c.7326G>C (p.Arg2442Ser)	CHD6 (R2442S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328933	NM_032221.5(CHD6):c.7326G>T (p.Arg2442Ser)	CHD6 (R2442S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274007	NM_032221.5(CHD6):c.7325G>C (p.Arg2442Thr)	CHD6 (R2442T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601498	NM_032221.5(CHD6):c.7277A>G (p.Asn2426Ser)	CHD6 (N2426S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215491	NM_032221.5(CHD6):c.7247T>C (p.Leu2416Pro)	CHD6 (L2416P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320128	NM_032221.5(CHD6):c.7085T>G (p.Leu2362Arg)	CHD6 (L2362R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266877	NM_032221.5(CHD6):c.6872G>A (p.Arg2291Gln)	CHD6 (R2291Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144185	NM_032221.5(CHD6):c.6860G>A (p.Arg2287Gln)	CHD6 (R2287Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394574	NM_032221.5(CHD6):c.6821A>G (p.Asn2274Ser)	CHD6 (N2274S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558121	NM_032221.5(CHD6):c.6755T>G (p.Leu2252Arg)	CHD6 (L2252R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568535	NM_032221.5(CHD6):c.6649A>G (p.Met2217Val)	CHD6 (M2217V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302984	NM_032221.5(CHD6):c.6644C>T (p.Ser2215Leu)	CHD6 (S2215L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241033	NM_032221.5(CHD6):c.6593C>G (p.Ser2198Cys)	CHD6 (S2198C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266868	NM_032221.5(CHD6):c.6536G>A (p.Arg2179His)	CHD6 (R2179H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301234	NM_032221.5(CHD6):c.6520G>A (p.Glu2174Lys)	CHD6 (E2174K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597005	NM_032221.5(CHD6):c.6499G>A (p.Ala2167Thr)	CHD6 (A2167T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558670	NM_032221.5(CHD6):c.6284G>A (p.Arg2095His)	CHD6 (R2095H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144182	NM_032221.5(CHD6):c.6257A>T (p.Tyr2086Phe)	CHD6 (Y2086F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260938	NM_032221.5(CHD6):c.6223A>G (p.Thr2075Ala)	CHD6 (T2075A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385413	NM_032221.5(CHD6):c.6191T>C (p.Ile2064Thr)	CHD6 (I2064T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410553	NM_032221.5(CHD6):c.6109G>A (p.Gly2037Arg)	CHD6 (G2037R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266880	NM_032221.5(CHD6):c.6020A>G (p.Gln2007Arg)	CHD6 (Q2007R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608874	NM_032221.5(CHD6):c.6013G>C (p.Glu2005Gln)	CHD6 (E2005Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494702	NM_032221.5(CHD6):c.5962C>A (p.Pro1988Thr)	CHD6 (P1988T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531572	NM_032221.5(CHD6):c.5874G>T (p.Glu1958Asp)	CHD6 (E1958D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544785	NM_032221.5(CHD6):c.5863T>A (p.Phe1955Ile)	CHD6 (F1955I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286862	NM_032221.5(CHD6):c.5603A>T (p.Glu1868Val)	CHD6 (E1868V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266873	NM_032221.5(CHD6):c.5561A>G (p.Glu1854Gly)	CHD6 (E1854G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144181	NM_032221.5(CHD6):c.5429T>C (p.Leu1810Ser)	CHD6 (L1810S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144180	NM_032221.5(CHD6):c.5406T>G (p.Ile1802Met)	CHD6 (I1802M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144179	NM_032221.5(CHD6):c.5405T>C (p.Ile1802Thr)	CHD6 (I1802T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144178	NM_032221.5(CHD6):c.5393G>T (p.Arg1798Ile)	CHD6 (R1798I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524668	NM_032221.5(CHD6):c.5350A>G (p.Ile1784Val)	CHD6 (I1784V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333985	NM_032221.5(CHD6):c.5279T>G (p.Phe1760Cys)	CHD6 (F1760C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314823	NM_032221.5(CHD6):c.5269G>C (p.Gly1757Arg)	CHD6 (G1757R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486918	NM_032221.5(CHD6):c.5222A>G (p.Lys1741Arg)	CHD6 (K1741R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2240923	NM_032221.5(CHD6):c.5203A>G (p.Ile1735Val)	CHD6 (I1735V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3144177	NM_032221.5(CHD6):c.5197G>A (p.Asp1733Asn)	CHD6 (D1733N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483374	NM_032221.5(CHD6):c.5186A>C (p.Glu1729Ala)	CHD6 (E1729A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209787	NM_032221.5(CHD6):c.5180A>G (p.Asn1727Ser)	CHD6 (N1727S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3144176	NM_032221.5(CHD6):c.5179A>G (p.Asn1727Asp)	CHD6 (N1727D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309788	NM_032221.5(CHD6):c.5155T>C (p.Ser1719Pro)	CHD6 (S1719P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266874	NM_032221.5(CHD6):c.5082T>G (p.His1694Gln)	CHD6 (H1694Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234408	NM_032221.5(CHD6):c.5038G>A (p.Glu1680Lys)	CHD6 (E1680K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254408	NM_032221.5(CHD6):c.4871A>G (p.Gln1624Arg)	CHD6 (Q1624R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615356	NM_032221.5(CHD6):c.4850A>G (p.Gln1617Arg)	CHD6 (Q1617R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282362	NM_032221.5(CHD6):c.4828G>A (p.Asp1610Asn)	CHD6 (D1610N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508012	NM_032221.5(CHD6):c.4756A>G (p.Ile1586Val)	CHD6 (I1586V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212681	NM_032221.5(CHD6):c.4745G>A (p.Arg1582Gln)	CHD6 (R1582Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514245	NM_032221.5(CHD6):c.4637G>A (p.Arg1546Gln)	CHD6 (R1546Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144175	NM_032221.5(CHD6):c.4636C>T (p.Arg1546Trp)	CHD6 (R1546W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481762	NM_032221.5(CHD6):c.4622G>A (p.Arg1541His)	CHD6 (R1541H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291674	NM_032221.5(CHD6):c.4601G>A (p.Arg1534His)	CHD6 (R1534H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318275	NM_032221.5(CHD6):c.4570A>G (p.Thr1524Ala)	CHD6 (T1524A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266871	NM_032221.5(CHD6):c.4531C>T (p.Arg1511Cys)	CHD6 (R1511C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274792	NM_032221.5(CHD6):c.4445G>A (p.Arg1482His)	CHD6 (R1482H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234776	NM_032221.5(CHD6):c.4244G>A (p.Arg1415Gln)	CHD6 (R1415Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276833	NM_032221.5(CHD6):c.4241G>T (p.Cys1414Phe)	CHD6 (C1414F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507989	NM_032221.5(CHD6):c.4096G>A (p.Val1366Ile)	CHD6 (V1366I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2595207	NM_032221.5(CHD6):c.4094G>A (p.Gly1365Asp)	CHD6 (G1365D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266878	NM_032221.5(CHD6):c.4073G>A (p.Ser1358Asn)	CHD6 (S1358N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144172	NM_032221.5(CHD6):c.3823G>A (p.Asp1275Asn)	CHD6 (D1275N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378462	NM_032221.5(CHD6):c.3813G>C (p.Glu1271Asp)	CHD6 (E1271D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144171	NM_032221.5(CHD6):c.3809T>C (p.Met1270Thr)	CHD6 (M1270T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540951	NM_032221.5(CHD6):c.3806A>T (p.Tyr1269Phe)	CHD6 (Y1269F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314552	NM_032221.5(CHD6):c.3749A>G (p.Lys1250Arg)	CHD6 (K1250R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144170	NM_032221.5(CHD6):c.3747G>C (p.Glu1249Asp)	CHD6 (E1249D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3144169	NM_032221.5(CHD6):c.3235C>T (p.Pro1079Ser)	CHD6 (P1079S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266872	NM_032221.5(CHD6):c.3136G>A (p.Asp1046Asn)	CHD6 (D1046N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144168	NM_032221.5(CHD6):c.2890T>G (p.Leu964Val)	CHD6 (L964V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624171	NM_032221.5(CHD6):c.2365G>A (p.Asp789Asn)	CHD6 (D789N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266870	NM_032221.5(CHD6):c.2212A>G (p.Met738Val)	CHD6 (M738V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144166	NM_032221.5(CHD6):c.2189A>C (p.Asn730Thr)	CHD6 (N730T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144165	NM_032221.5(CHD6):c.1717G>A (p.Val573Ile)	CHD6 (V573I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605523	NM_032221.5(CHD6):c.1370A>G (p.Asn457Ser)	CHD6 (N457S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144191	NM_032221.5(CHD6):c.940G>A (p.Asp314Asn)	CHD6 (D314N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540112	NM_032221.5(CHD6):c.835C>G (p.Leu279Val)	CHD6 (L279V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144190	NM_032221.5(CHD6):c.826G>A (p.Ala276Thr)	CHD6 (A276T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518889	NM_032221.5(CHD6):c.722A>G (p.Gln241Arg)	CHD6 (Q241R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144184	NM_032221.5(CHD6):c.650C>G (p.Thr217Arg)	CHD6 (T217R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273276	NM_032221.5(CHD6):c.536C>T (p.Thr179Met)	CHD6 (T179M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555807	NM_032221.5(CHD6):c.530C>T (p.Ala177Val)	CHD6 (A177V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364843	NM_032221.5(CHD6):c.464G>A (p.Arg155Gln)	CHD6 (R155Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609283	NM_032221.5(CHD6):c.452C>A (p.Ala151Glu)	CHD6 (A151E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387227	NM_032221.5(CHD6):c.452C>T (p.Ala151Val)	CHD6 (A151V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2393532	NM_032221.5(CHD6):c.434C>T (p.Pro145Leu)	CHD6 (P145L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341840	NM_032221.5(CHD6):c.365G>A (p.Arg122Gln)	CHD6 (R122Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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