"Ambry Genetics"[submitter] AND "CHD5"[gene] - ClinVar

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2465191	NM_015557.3(CHD5):c.5815A>G (p.Ile1939Val)	CHD5 (I1939V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394182	NM_015557.3(CHD5):c.5807C>T (p.Pro1936Leu)	CHD5 (P1936L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272284	NM_015557.3(CHD5):c.5790C>A (p.Asn1930Lys)	CHD5 (N1930K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144162	NM_015557.3(CHD5):c.5752G>C (p.Gly1918Arg)	CHD5 (G1918R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315504	NM_015557.3(CHD5):c.5744G>C (p.Gly1915Ala)	CHD5 (G1915A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144161	NM_015557.3(CHD5):c.5729C>T (p.Pro1910Leu)	CHD5 (P1910L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256121	NM_015557.3(CHD5):c.5716C>T (p.Arg1906Cys)	CHD5 (R1906C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523304	NM_015557.3(CHD5):c.5704C>T (p.Arg1902Cys)	CHD5 (R1902C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144160	NM_015557.3(CHD5):c.5667C>T (p.Ala1889=)	CHD5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3266865	NM_015557.3(CHD5):c.5245G>A (p.Val1749Met)	CHD5 (V1749M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524169	NM_015557.3(CHD5):c.5225A>C (p.Tyr1742Ser)	CHD5 (Y1742S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144159	NM_015557.3(CHD5):c.5213G>A (p.Arg1738Gln)	CHD5 (R1738Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287921	NM_015557.3(CHD5):c.5123C>T (p.Ala1708Val)	CHD5 (A1708V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144158	NM_015557.3(CHD5):c.5104A>C (p.Lys1702Gln)	CHD5 (K1702Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343469	NM_015557.3(CHD5):c.5080A>G (p.Lys1694Glu)	CHD5 (K1694E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266853	NM_015557.3(CHD5):c.5008A>G (p.Thr1670Ala)	CHD5 (T1670A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600084	NM_015557.3(CHD5):c.5003A>G (p.Asp1668Gly)	CHD5 (D1668G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266861	NM_015557.3(CHD5):c.4945G>A (p.Asp1649Asn)	CHD5 (D1649N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239341	NM_015557.3(CHD5):c.4907C>G (p.Pro1636Arg)	CHD5 (P1636R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144157	NM_015557.3(CHD5):c.4897G>A (p.Glu1633Lys)	CHD5 (E1633K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266858	NM_015557.3(CHD5):c.4888C>A (p.Pro1630Thr)	CHD5 (P1630T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144156	NM_015557.3(CHD5):c.4885C>T (p.Pro1629Ser)	CHD5 (P1629S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558657	NM_015557.3(CHD5):c.4735A>G (p.Lys1579Glu)	CHD5 (K1579E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144155	NM_015557.3(CHD5):c.4703A>C (p.Lys1568Thr)	CHD5 (K1568T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144154	NM_015557.3(CHD5):c.4685C>T (p.Pro1562Leu)	CHD5 (P1562L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317482	NM_015557.3(CHD5):c.4657G>A (p.Ala1553Thr)	CHD5 (A1553T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324563	NM_015557.3(CHD5):c.4579C>T (p.Pro1527Ser)	CHD5 (P1527S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411464	NM_015557.3(CHD5):c.4528G>C (p.Val1510Leu)	CHD5 (V1510L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290887	NM_015557.3(CHD5):c.4513G>C (p.Gly1505Arg)	CHD5 (G1505R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266866	NM_015557.3(CHD5):c.4439C>T (p.Ala1480Val)	CHD5 (A1480V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543534	NM_015557.3(CHD5):c.4433C>T (p.Pro1478Leu)	CHD5 (P1478L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223118	NM_015557.3(CHD5):c.4381G>C (p.Glu1461Gln)	CHD5 (E1461Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407571	NM_015557.3(CHD5):c.4379G>T (p.Ser1460Ile)	CHD5 (S1460I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3144153	NM_015557.3(CHD5):c.4309A>T (p.Met1437Leu)	CHD5 (M1437L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1701092	NM_015557.3(CHD5):c.4303G>A (p.Ala1435Thr)	CHD5 (A1435T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2483286	NM_015557.3(CHD5):c.4268G>C (p.Gly1423Ala)	CHD5 (G1423A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338503	NM_015557.3(CHD5):c.4009C>T (p.Arg1337Cys)	CHD5 (R1337C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266855	NM_015557.3(CHD5):c.3974G>T (p.Arg1325Leu)	CHD5 (R1325L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391506	NM_015557.3(CHD5):c.3613G>A (p.Val1205Met)	CHD5 (V1205M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260080	NM_015557.3(CHD5):c.3520C>T (p.Arg1174Trp)	CHD5 (R1174W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266854	NM_015557.3(CHD5):c.3200A>G (p.Tyr1067Cys)	CHD5 (Y1067C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493294	NM_015557.3(CHD5):c.2824G>T (p.Ala942Ser)	CHD5 (A942S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279163	NM_015557.3(CHD5):c.2591A>G (p.Asn864Ser)	CHD5 (N864S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266863	NM_015557.3(CHD5):c.2414G>T (p.Gly805Val)	CHD5 (G805V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611611	NM_015557.3(CHD5):c.2398A>G (p.Asn800Asp)	CHD5 (N800D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144149	NM_015557.3(CHD5):c.2329G>A (p.Val777Met)	CHD5 (V777M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224371	NM_015557.3(CHD5):c.2267C>T (p.Ala756Val)	CHD5 (A756V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401258	NM_015557.3(CHD5):c.2105C>T (p.Pro702Leu)	CHD5 (P702L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225484	NM_015557.3(CHD5):c.2077A>G (p.Ile693Val)	CHD5 (I693V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335433	NM_015557.3(CHD5):c.2068C>T (p.Pro690Ser)	CHD5 (P690S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364594	NM_015557.3(CHD5):c.2062A>G (p.Lys688Glu)	CHD5 (K688E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390715	NM_015557.3(CHD5):c.2021C>T (p.Pro674Leu)	CHD5 (P674L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266862	NM_015557.3(CHD5):c.1994A>G (p.Lys665Arg)	CHD5 (K665R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144148	NM_015557.3(CHD5):c.1809C>G (p.Asp603Glu)	CHD5 (D603E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375477	NM_015557.3(CHD5):c.1783C>T (p.His595Tyr)	CHD5 (H595Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609429	NM_015557.3(CHD5):c.1759A>G (p.Ile587Val)	CHD5 (I587V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353233	NM_015557.3(CHD5):c.1750C>T (p.Arg584Cys)	CHD5 (R584C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350187	NM_015557.3(CHD5):c.1652C>A (p.Pro551Gln)	CHD5 (P551Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144147	NM_015557.3(CHD5):c.1607C>T (p.Thr536Met)	CHD5 (T536M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144146	NM_015557.3(CHD5):c.1547C>T (p.Ala516Val)	CHD5 (A516V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144145	NM_015557.3(CHD5):c.1487G>A (p.Ser496Asn)	CHD5 (S496N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470309	NM_015557.3(CHD5):c.1466C>T (p.Pro489Leu)	CHD5 (P489L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569743	NM_015557.3(CHD5):c.1438C>G (p.Pro480Ala)	CHD5 (P480A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144144	NM_015557.3(CHD5):c.1307C>T (p.Ser436Phe)	CHD5 (S436F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493842	NM_015557.3(CHD5):c.1240G>A (p.Asp414Asn)	CHD5 (D414N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266857	NM_015557.3(CHD5):c.1172G>T (p.Gly391Val)	CHD5 (G391V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476997	NM_015557.3(CHD5):c.1166A>C (p.Lys389Thr)	CHD5 (K389T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144142	NM_015557.3(CHD5):c.1135G>A (p.Glu379Lys)	CHD5 (E379K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475657	NM_015557.3(CHD5):c.821T>A (p.Leu274His)	CHD5 (L274H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219128	NM_015557.3(CHD5):c.817G>A (p.Gly273Arg)	CHD5 (G273R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221528	NM_015557.3(CHD5):c.809A>C (p.Lys270Thr)	CHD5 (K270T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248261	NM_015557.3(CHD5):c.782A>T (p.Asp261Val)	CHD5 (D261V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266860	NM_015557.3(CHD5):c.752G>A (p.Gly251Glu)	CHD5 (G251E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540803	NM_015557.3(CHD5):c.697G>A (p.Val233Met)	CHD5 (V233M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365948	NM_015557.3(CHD5):c.692C>T (p.Pro231Leu)	CHD5 (P231L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144163	NM_015557.3(CHD5):c.674C>T (p.Pro225Leu)	CHD5 (P225L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478965	NM_015557.3(CHD5):c.655A>G (p.Thr219Ala)	CHD5 (T219A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337983	NM_015557.3(CHD5):c.644C>T (p.Ala215Val)	CHD5 (A215V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2358961	NM_015557.3(CHD5):c.632C>T (p.Ala211Val)	CHD5 (A211V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459723	NM_015557.3(CHD5):c.589G>A (p.Ala197Thr)	CHD5 (A197T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266867	NM_015557.3(CHD5):c.521A>G (p.Lys174Arg)	CHD5 (K174R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300309	NM_015557.3(CHD5):c.424G>A (p.Gly142Ser)	CHD5 (G142S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248442	NM_015557.3(CHD5):c.421T>G (p.Trp141Gly)	CHD5 (W141G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144151	NM_015557.3(CHD5):c.331G>A (p.Ala111Thr)	CHD5 (A111T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601942	NM_015557.3(CHD5):c.283C>A (p.Pro95Thr)	CHD5 (P95T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266856	NM_015557.3(CHD5):c.254A>T (p.Lys85Met)	CHD5 (K85M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266864	NM_015557.3(CHD5):c.113A>T (p.Asp38Val)	CHD5 (D38V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144164	NM_015557.3(CHD5):c.95G>A (p.Gly32Asp)	CHD5 (G32D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391507	NM_015557.3(CHD5):c.92G>T (p.Gly31Val)	CHD5 (G31V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374104	NM_015557.3(CHD5):c.67G>A (p.Asp23Asn)	CHD5 (D23N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603955	NM_015557.3(CHD5):c.56T>C (p.Met19Thr)	CHD5 (M19T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar

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Items: 91