26038[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC121967050, LOC121967051 +520 more	Copy number loss	See cases	GPathogenic
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 149968	GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	CEP104, CFAP74 +449 more	Copy number loss	See cases	GPathogenic
Select item 154642	GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	PUSL1, RER1 +470 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 147354	GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	LOC129929192, LOC129929193 +490 more	Copy number loss	See cases	GPathogenic
Select item 144461	GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	ACAP3, ACOT7 +441 more	Copy number loss	See cases	GPathogenic
Select item 57440	GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1	ACAP3, ACOT7 +401 more	Copy number loss	See cases	GPathogenic
Select item 150566	GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1	LOC129929237, LOC129929238 +401 more	Copy number loss	See cases	GPathogenic
Select item 58294	GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	ACAP3, ACOT7 +519 more	Copy number loss	See cases	GPathogenic
Select item 154584	GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	LOC129929075, LOC129929076 +464 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 more	Copy number loss	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 57390	GRCh38/hg38 1p36.32-36.23(chr1:2844760-8007940)x1	ACOT7, ACTRT2 +226 more	Copy number loss	See cases	GPathogenic
Select item 152936	GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1	LOC112577578, LOC112577579 +199 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 59852	GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)x1	ACOT7, AJAP1 +193 more	Copy number loss	See cases	GPathogenic
Select item 58041	GRCh38/hg38 1p36.32-36.31(chr1:4799319-6129675)x3	CHD5, KCNAB2 +27 more	Copy number gain	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 3336302	NM_015557.3(CHD5):c.*71G>T	CHD5	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 2638116	NM_015557.3(CHD5):c.*47-4G>T	CHD5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2637562	NM_015557.3(CHD5):c.*46+15G>A	CHD5	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2497924	NM_015557.3(CHD5):c.5843G>A (p.Gly1948Glu)	CHD5 (G1948E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104557	NM_015557.3(CHD5):c.5830C>T (p.Gln1944Ter)	CHD5 (Q1944*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 2872160	NM_015557.3(CHD5):c.5765T>A (p.Met1922Lys)	CHD5 (M1922K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364674	NM_015557.3(CHD5):c.5753G>A (p.Gly1918Asp)	CHD5 (G1918D)	Single nucleotide variant (missense variant)	not provided	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 1675338	NM_015557.3(CHD5):c.5725del (p.Asp1909fs)	CHD5 (D1909fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3356775	NM_015557.3(CHD5):c.5720_5722dup (p.Ala1907_Gly1908insAla)	CHD5	Duplication (inframe_insertion)	CHD5-related disorder	GUncertain significance
Select item 2702968	NM_015557.3(CHD5):c.5719G>A (p.Ala1907Thr)	CHD5 (A1907T)	Single nucleotide variant (missense variant)	not provided	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 1315245	NM_015557.3(CHD5):c.5689C>T (p.Arg1897Cys)	CHD5 (R1897C)	Single nucleotide variant (missense variant)	not provided	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 2571825	NM_015557.3(CHD5):c.5656C>G (p.Pro1886Ala)	CHD5 (P1886A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363955	NM_015557.3(CHD5):c.5608G>A (p.Asp1870Asn)	CHD5 (D1870N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251946	NM_015557.3(CHD5):c.5596_5597delinsTT (p.Glu1866Leu)	CHD5 (E1866L)	Indel (missense variant)	Parenti-mignot neurodevelopmental syndrome	GLikely pathogenic
Select item 729293	NM_015557.3(CHD5):c.5589G>A (p.Gln1863=)	CHD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3350887	NM_015557.3(CHD5):c.5565C>T (p.Ala1855=)	CHD5	Single nucleotide variant (synonymous variant)	CHD5-related disorder	GLikely benign
Select item 3345038	NM_015557.3(CHD5):c.5542G>C (p.Ala1848Pro)	CHD5 (A1848P)	Single nucleotide variant (missense variant)	CHD5-related disorder	GUncertain significance
Select item 782353	NM_015557.3(CHD5):c.5445G>A (p.Thr1815=)	CHD5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 750465	NM_015557.3(CHD5):c.5427C>T (p.Ala1809=)	CHD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1712673	NM_015557.3(CHD5):c.5308G>C (p.Glu1770Gln)	CHD5 (E1770Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699042	NM_015557.3(CHD5):c.5305A>G (p.Asn1769Asp)	CHD5 (N1769D)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3253071	NM_015557.3(CHD5):c.5254G>T (p.Gly1752Cys)	CHD5 (G1752C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572187	NM_015557.3(CHD5):c.5252A>G (p.His1751Arg)	CHD5 (H1751R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 983057	NM_015557.3(CHD5):c.5249C>T (p.Thr1750Met)	CHD5 (T1750M)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
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 2414336	NM_015557.3(CHD5):c.5212C>T (p.Arg1738Trp)	CHD5 (R1738W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342521	NM_015557.3(CHD5):c.5204T>A (p.Ile1735Asn)	CHD5 (I1735N)	Single nucleotide variant (missense variant)	CHD5-related Neurodevelopmental disorder	GUncertain significance
Select item 995789	NM_015557.3(CHD5):c.5141A>G (p.Glu1714Gly)	CHD5 (E1714G)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GLikely pathogenic
Select item 742511	NM_015557.3(CHD5):c.5127C>T (p.Asp1709=)	CHD5	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1305742	NM_015557.3(CHD5):c.5086G>A (p.Asp1696Asn)	CHD5 (D1696N)	Single nucleotide variant (missense variant)	not provided	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 3067854	NM_015557.3(CHD5):c.5047A>C (p.Asn1683His)	CHD5 (N1683H)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	GUncertain significance
Select item 3350654	NM_015557.3(CHD5):c.5031C>A (p.Pro1677=)	CHD5	Single nucleotide variant (synonymous variant)	CHD5-related disorder	GLikely benign
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 2627296	NM_015557.3(CHD5):c.5003-3delinsGA	CHD5	Indel (intron variant)	not specified	GUncertain significance
Select item 712824	NM_015557.3(CHD5):c.5003-5G>A	CHD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1805982	NM_015557.3(CHD5):c.4990G>A (p.Glu1664Lys)	CHD5 (E1664K)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	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 728919	NM_015557.3(CHD5):c.4862G>A (p.Arg1621Gln)	CHD5 (R1621Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1307836	NM_015557.3(CHD5):c.4852C>T (p.Arg1618Ter)	CHD5 (R1618*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3355454	NM_015557.3(CHD5):c.4792G>A (p.Ala1598Thr)	CHD5 (A1598T)	Single nucleotide variant (missense variant)	CHD5-related disorder	GLikely benign
Select item 783274	NM_015557.3(CHD5):c.4780-3C>T	CHD5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3026592	NM_015557.3(CHD5):c.4757C>T (p.Pro1586Leu)	CHD5 (P1586L)	Single nucleotide variant (missense variant)	not provided	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 2638117	NM_015557.3(CHD5):c.4728G>T (p.Met1576Ile)	CHD5 (M1576I)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3358690	NM_015557.3(CHD5):c.4724A>G (p.Tyr1575Cys)	CHD5 (Y1575C)	Single nucleotide variant (missense variant)	CHD5-related disorder	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 2573580	NM_015557.3(CHD5):c.4672C>G (p.Leu1558Val)	CHD5 (L1558V)	Single nucleotide variant (missense variant)	not specified	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 2672145	NM_015557.3(CHD5):c.4640C>T (p.Pro1547Leu)	CHD5 (P1547L)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	GUncertain significance
Select item 3061628	NM_015557.3(CHD5):c.4620C>T (p.Gly1540=)	CHD5	Single nucleotide variant (synonymous variant)	CHD5-related disorder	GUncertain significance
Select item 2585658	NM_015557.3(CHD5):c.4615T>C (p.Ser1539Pro)	CHD5 (S1539P)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	GBenign
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 2444409	NM_015557.3(CHD5):c.4572C>A (p.Tyr1524Ter)	CHD5 (Y1524*)	Single nucleotide variant (nonsense)	Parenti-mignot neurodevelopmental syndrome	GLikely pathogenic
Select item 3344253	NM_015557.3(CHD5):c.4540-6C>T	CHD5	Single nucleotide variant (intron variant)	CHD5-related disorder	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 1341628	NM_015557.3(CHD5):c.4498G>A (p.Val1500Met)	CHD5 (V1500M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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