CHD6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	LOC130065861, LOC130065862 +568 more	Copy number loss	See cases	GPathogenic
Select item 148371	GRCh38/hg38 20q12(chr20:41254206-41853686)x3	CHD6, EMILIN3 +19 more	Copy number gain	See cases	GLikely benign
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 779190	NM_032221.5(CHD6):c.7935G>A (p.Ser2645=)	CHD6	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 747340	NM_032221.5(CHD6):c.7656G>A (p.Ala2552=)	CHD6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 781499	NM_032221.5(CHD6):c.7210G>C (p.Glu2404Gln)	CHD6 (E2404Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 218816	NM_032221.5(CHD6):c.7165C>T (p.Arg2389Cys)	CHD6 (R2389C)	Single nucleotide variant (missense variant)	not specified	GBenign
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 779191	NM_032221.5(CHD6):c.6964G>A (p.Ala2322Thr)	CHD6 (A2322T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 721889	NM_032221.5(CHD6):c.6939+8T>C	CHD6	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2652333	NM_032221.5(CHD6):c.6741A>T (p.Ser2247=)	CHD6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 722426	NM_032221.5(CHD6):c.6285C>T (p.Arg2095=)	CHD6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 760309	NM_032221.5(CHD6):c.6171A>G (p.Thr2057=)	CHD6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1334761	NM_032221.5(CHD6):c.5882_5895del (p.Lys1961fs)	CHD6 (K1961fs)	Deletion (frameshift variant)	not provided	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 3024920	NM_032221.5(CHD6):c.5577G>A (p.Leu1859=)	CHD6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 777575	NM_032221.5(CHD6):c.5277T>A (p.Thr1759=)	CHD6	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 777576	NM_032221.5(CHD6):c.4556G>A (p.Gly1519Asp)	CHD6 (G1519D)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2652334	NM_032221.5(CHD6):c.3858C>T (p.Leu1286=)	CHD6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 775648	NM_032221.5(CHD6):c.3813G>A (p.Glu1271=)	CHD6	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 724654	NM_032221.5(CHD6):c.3627C>T (p.Pro1209=)	CHD6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1252247	NM_032221.5(CHD6):c.3614C>G (p.Ala1205Gly)	CHD6 (A1205G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 995634	NM_032221.5(CHD6):c.3403C>T (p.Arg1135Cys)	CHD6 (R1135C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 635181	NM_032221.5(CHD6):c.3296G>A (p.Arg1099Gln)	CHD6 (R1099Q)	Single nucleotide variant (missense variant)	Adult spinal cord ependymoma	GUncertain significance
Select item 785655	NM_032221.5(CHD6):c.3252C>T (p.Arg1084=)	CHD6	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2652335	NM_032221.5(CHD6):c.2997C>T (p.Ser999=)	CHD6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 729216	NM_032221.5(CHD6):c.2745C>G (p.Arg915=)	CHD6	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3144166	NM_032221.5(CHD6):c.2189A>C (p.Asn730Thr)	CHD6 (N730T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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