CHD4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	A2ML1, A2ML1-AS1 +479 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +350 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	A2M, A2M-AS1 +1266 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	NINJ2-AS1, PARP11 +1266 more	Copy number gain	See cases	GPathogenic
Select item 4796136	GRCh38/hg38 12p13.33-11.1(chr12:64621-34650483)x3	LOC124629327, LOC124629329 +1266 more	Copy number gain	not provided	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC132090103, LOC132090104 +1266 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1015 more	Copy number gain	See cases	GPathogenic
Select item 4755352	GRCh38/hg38 12p13.33-q13.12(chr12:82453-49847230)x3	LOC130007524, LOC130007525 +1654 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	A2M, A2M-AS1 +1265 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC124849277, LOC124849278 +4860 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC130007356, LOC130007357 +1265 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	A2M, A2M-AS1 +1250 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +856 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	A2M, A2M-AS1 +701 more	Copy number gain	See cases	GPathogenic
Select item 4388160	NM_001273.5(CHD4):c.*382C>A	CHD4, CHD4-AS1	Single nucleotide variant (3 prime UTR variant)	Not Specified
Select item 1610854	NM_001273.5(CHD4):c.5722-7T>C	CHD4, CHD4-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1605705	NM_001273.5(CHD4):c.5722-17C>T	CHD4, CHD4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 4388161	NM_001273.5(CHD4):c.5722-18T>G	CHD4, CHD4-AS1	Single nucleotide variant (intron variant)	Not Specified
Select item 4388162	NM_001273.5(CHD4):c.5721+2T>C	CHD4, CHD4-AS1	Single nucleotide variant (splice donor variant)	Not Specified
Select item 1683814	NM_001273.5(CHD4):c.5716C>T (p.Gln1906Ter)	CHD4, CHD4-AS1 (Q1896* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2642621	NM_001273.5(CHD4):c.5711C>T (p.Thr1904Ile)	CHD4, CHD4-AS1 (T1894I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715787	NM_001273.5(CHD4):c.5703C>T (p.Pro1901=)	CHD4, CHD4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742898	NM_001273.5(CHD4):c.5703C>A (p.Pro1901=)	CHD4, CHD4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790460	NM_001273.5(CHD4):c.5699C>T (p.Ala1900Val)	CHD4, CHD4-AS1 (A1893V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3065316	NM_001273.5(CHD4):c.5695C>T (p.Arg1899Trp)	CHD4, CHD4-AS1 (R1889W +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 2633407	NM_001273.5(CHD4):c.5695C>G (p.Arg1899Gly)	CHD4, CHD4-AS1 (R1889G +2 more)	Single nucleotide variant (missense variant)	CHD4-related disorder	GUncertain significance
Select item 2031101	NM_001273.5(CHD4):c.5694C>T (p.Asn1898=)	CHD4, CHD4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642622	NM_001273.5(CHD4):c.5669G>A (p.Arg1890His)	CHD4, CHD4-AS1 (R1880H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 996999	NM_001273.5(CHD4):c.5669G>T (p.Arg1890Leu)	CHD4, CHD4-AS1 (R1880L +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 3897460	NM_001273.5(CHD4):c.5659A>T (p.Met1887Leu)	CHD4, CHD4-AS1 (M1877L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370522	NM_001273.5(CHD4):c.5639C>T (p.Pro1880Leu)	CHD4, CHD4-AS1 (P1870L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 982183	NM_001273.5(CHD4):c.5638C>T (p.Pro1880Ser)	CHD4, CHD4-AS1 (P1870S +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 3363889	NM_001273.5(CHD4):c.5629C>T (p.Arg1877Ter)	CHD4, CHD4-AS1 (R1867* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1520618	NM_001273.5(CHD4):c.5626G>A (p.Ala1876Thr)	CHD4, CHD4-AS1 (A1869T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3144139	NM_001273.5(CHD4):c.5620A>G (p.Thr1874Ala)	CHD4, CHD4-AS1 (T1867A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3030743	NM_001273.5(CHD4):c.5558-9C>T	CHD4, CHD4-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1922750	NM_001273.5(CHD4):c.5558-18C>T	CHD4, CHD4-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2084022	NM_001273.5(CHD4):c.5557+8G>A	CHD4, CHD4-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3905439	NM_001273.5(CHD4):c.5557+4G>A	CHD4, CHD4-AS1	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 2692459	NM_001273.5(CHD4):c.5553C>T (p.His1851=)	CHD4, CHD4-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1693088	NM_001273.5(CHD4):c.5543C>T (p.Ala1848Val)	CHD4, CHD4-AS1 (A1837V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3832807	NM_001273.5(CHD4):c.5540A>G (p.Asn1847Ser)	CHD4, CHD4-AS1 (N1840S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 764762	NM_001273.5(CHD4):c.5529C>T (p.Asn1843=)	CHD4, CHD4-AS1	Single nucleotide variant (synonymous variant)	Sifrim-Hitz-Weiss syndrome +1 more	GBenign/Likely benign
Select item 4388165	NM_001273.5(CHD4):c.5516C>A (p.Ser1839Ter)	CHD4, CHD4-AS1 (S1832* +2 more)	Single nucleotide variant (nonsense)	Not Specified
Select item 1299613	NM_001273.5(CHD4):c.5507C>G (p.Ser1836Cys)	CHD4, CHD4-AS1 (S1825C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2167814	NM_001273.5(CHD4):c.5503C>T (p.Leu1835=)	CHD4, CHD4-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 4281947	NM_001273.5(CHD4):c.5491A>G (p.Ser1831Gly)	CHD4, CHD4-AS1 (S1820G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439985	NM_001273.5(CHD4):c.5472G>C (p.Glu1824Asp)	CHD4, CHD4-AS1 (E1813D +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 794637	NM_001273.5(CHD4):c.5454C>G (p.Leu1818=)	CHD4, CHD4-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1804930	NM_001273.5(CHD4):c.5432C>T (p.Pro1811Leu)	CHD4, CHD4-AS1 (P1800L +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 3343202	NM_001273.5(CHD4):c.5431C>A (p.Pro1811Thr)	CHD4, CHD4-AS1 (P1800T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302081	NM_001273.5(CHD4):c.5430C>A (p.Asp1810Glu)	CHD4, CHD4-AS1 (D1799E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4388166	NM_001273.5(CHD4):c.5423C>G (p.Ser1808Ter)	CHD4, CHD4-AS1 (S1801* +2 more)	Single nucleotide variant (nonsense)	Not Specified
Select item 1675175	NM_001273.5(CHD4):c.5411A>G (p.Tyr1804Cys)	CHD4-AS1, CHD4 (Y1793C +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 3895855	NM_001273.5(CHD4):c.5379G>A (p.Leu1793=)	CHD4, CHD4-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2872362	NM_001273.5(CHD4):c.5373A>G (p.Gln1791=)	CHD4, CHD4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3037369	NM_001273.5(CHD4):c.5362-3C>T	CHD4, CHD4-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 4704554	NM_001273.5(CHD4):c.5362-16C>A	CHD4, CHD4-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 788654	NM_001273.5(CHD4):c.5361+8G>T	CHD4, CHD4-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 4388181	NM_001273.5(CHD4):c.5361+1G>A	CHD4, CHD4-AS1	Single nucleotide variant (splice donor variant)	Not Specified
Select item 2894308	NM_001273.5(CHD4):c.5325A>G (p.Leu1775=)	CHD4, CHD4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 4614597	NM_001273.5(CHD4):c.5312G>A (p.Arg1771His)	CHD4, CHD4-AS1 (R1760H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3362092	NM_001273.5(CHD4):c.5312G>C (p.Arg1771Pro)	CHD4, CHD4-AS1 (R1760P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 770409	NM_001273.5(CHD4):c.5292T>C (p.Pro1764=)	CHD4, CHD4-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 3053892	NM_001273.5(CHD4):c.5289G>A (p.Glu1763=)	CHD4, CHD4-AS1	Single nucleotide variant (synonymous variant)	CHD4-related disorder	GLikely benign
Select item 2208744	NM_001273.5(CHD4):c.5285A>G (p.Asn1762Ser)	CHD4, CHD4-AS1 (N1755S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3390551	NM_001273.5(CHD4):c.5279T>A (p.Ile1760Asn)	CHD4, CHD4-AS1 (I1749N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571730	NM_001273.5(CHD4):c.5276C>T (p.Ala1759Val)	CHD4, CHD4-AS1 (A1748V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 982182	NM_001273.5(CHD4):c.5273A>G (p.Tyr1758Cys)	CHD4, CHD4-AS1 (Y1747C +2 more)	Single nucleotide variant (missense variant)	CHD4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 4614616	NM_001273.5(CHD4):c.5266C>T (p.Pro1756Ser)	CHD4, CHD4-AS1 (P1756S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3684260	NM_001273.5(CHD4):c.5250A>G (p.Gln1750=)	CHD4, CHD4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983362	NM_001273.5(CHD4):c.5230C>T (p.His1744Tyr)	CHD4, CHD4-AS1 (H1737Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 761282	NM_001273.5(CHD4):c.5229-3T>C	CHD4, CHD4-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 4691847	NM_001273.5(CHD4):c.5228+12C>T	CHD4, CHD4-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1967977	NM_001273.5(CHD4):c.5228+9T>G	CHD4, CHD4-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3366537	NM_001273.5(CHD4):c.5224A>G (p.Ile1742Val)	CHD4, CHD4-AS1 (I1731V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 982181	NM_001273.5(CHD4):c.5221A>G (p.Ile1741Val)	CHD4, CHD4-AS1 (I1730V +2 more)	Single nucleotide variant (missense variant)	Moyamoya angiopathy with developmental delay	GLikely pathogenic
Select item 789212	NM_001273.5(CHD4):c.5217C>T (p.Ala1739=)	CHD4, CHD4-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1700380	NM_001273.5(CHD4):c.5192G>A (p.Arg1731Gln)	CHD4, CHD4-AS1 (R1720Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3573633	NM_001273.5(CHD4):c.5182A>G (p.Ile1728Val)	CHD4, CHD4-AS1 (I1717V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 728490	NM_001273.5(CHD4):c.5178T>C (p.Tyr1726=)	CHD4, CHD4-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3369373	NM_001273.5(CHD4):c.5169G>C (p.Lys1723Asn)	CHD4, CHD4-AS1 (K1712N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499341	NM_001273.5(CHD4):c.5159C>T (p.Thr1720Ile)	CHD4, CHD4-AS1 (T1709I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2239662	NM_001273.5(CHD4):c.5153C>T (p.Ala1718Val)	CHD4, CHD4-AS1 (A1711V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3765934	NM_001273.5(CHD4):c.5152G>C (p.Ala1718Pro)	CHD4, CHD4-AS1 (A1707P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 738731	NM_001273.5(CHD4):c.5120-9C>T	CHD4, CHD4-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2642623	NM_001273.5(CHD4):c.5119+59G>T	CHD4, CHD4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2584569	NM_001273.5(CHD4):c.5119+6G>C	CHD4, CHD4-AS1	Single nucleotide variant (intron variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 2499719	NM_001273.5(CHD4):c.5108G>A (p.Gly1703Asp)	CHD4, CHD4-AS1 (G1692D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642624	NM_001273.5(CHD4):c.5084G>A (p.Arg1695His)	CHD4, CHD4-AS1 (R1684H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3384834	NM_001273.5(CHD4):c.5078AAC[1] (p.Gln1694del)	CHD4, CHD4-AS1 (Q1683del +2 more)	Microsatellite	not specified +1 more	GUncertain significance
Select item 3144137	NM_001273.5(CHD4):c.5044G>C (p.Asp1682His)	CHD4, CHD4-AS1 (D1671H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2692439	NM_001273.5(CHD4):c.5044G>A (p.Asp1682Asn)	CHD4, CHD4-AS1 (D1671N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1463065	NM_001273.5(CHD4):c.5042A>G (p.Lys1681Arg)	CHD4, CHD4-AS1 (K1681R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4227792	NM_001273.5(CHD4):c.5036C>T (p.Thr1679Ile)	CHD4, CHD4-AS1 (T1668I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4753537	NM_001273.5(CHD4):c.5014G>A (p.Val1672Met)	CHD4, CHD4-AS1 (V1661M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178754	NM_001273.5(CHD4):c.4992AGA[3] (p.Glu1668del)	CHD4, CHD4-AS1 (E1657del +2 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1050361	NM_001273.5(CHD4):c.5002G>C (p.Glu1668Gln)	CHD4, CHD4-AS1 (E1657Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 4614592	NM_001273.5(CHD4):c.4996G>A (p.Glu1666Lys)	CHD4, CHD4-AS1 (E1659K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4388182	NM_001273.5(CHD4):c.4982-3T>A	CHD4, CHD4-AS1	Single nucleotide variant (intron variant)	Not Specified

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