1919[HGNC] - 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	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 1610854	NM_001273.5(CHD4):c.5722-7T>C	CHD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1605705	NM_001273.5(CHD4):c.5722-17C>T	CHD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1683814	NM_001273.5(CHD4):c.5716C>T (p.Gln1906Ter)	CHD4 (Q1896* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2642621	NM_001273.5(CHD4):c.5711C>T (p.Thr1904Ile)	CHD4 (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	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742898	NM_001273.5(CHD4):c.5703C>A (p.Pro1901=)	CHD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790460	NM_001273.5(CHD4):c.5699C>T (p.Ala1900Val)	CHD4 (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 (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 (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	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642622	NM_001273.5(CHD4):c.5669G>A (p.Arg1890His)	CHD4 (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 (R1880L +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 982183	NM_001273.5(CHD4):c.5638C>T (p.Pro1880Ser)	CHD4 (P1870S +2 more)	Single nucleotide variant (missense variant)	Moyamoya angiopathy with developmental delay	GLikely pathogenic
Select item 1520618	NM_001273.5(CHD4):c.5626G>A (p.Ala1876Thr)	CHD4 (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 (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	Single nucleotide variant (intron variant)	CHD4-related disorder	GLikely benign
Select item 1922750	NM_001273.5(CHD4):c.5558-18C>T	CHD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2084022	NM_001273.5(CHD4):c.5557+8G>A	CHD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2692459	NM_001273.5(CHD4):c.5553C>T (p.His1851=)	CHD4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1693088	NM_001273.5(CHD4):c.5543C>T (p.Ala1848Val)	CHD4 (A1837V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 764762	NM_001273.5(CHD4):c.5529C>T (p.Asn1843=)	CHD4	Single nucleotide variant (synonymous variant)	Sifrim-Hitz-Weiss syndrome +1 more	GBenign/Likely benign
Select item 1299613	NM_001273.5(CHD4):c.5507C>G (p.Ser1836Cys)	CHD4 (S1825C +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome +1 more	GUncertain significance
Select item 2167814	NM_001273.5(CHD4):c.5503C>T (p.Leu1835=)	CHD4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2439985	NM_001273.5(CHD4):c.5472G>C (p.Glu1824Asp)	CHD4 (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	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1804930	NM_001273.5(CHD4):c.5432C>T (p.Pro1811Leu)	CHD4 (P1800L +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 1302081	NM_001273.5(CHD4):c.5430C>A (p.Asp1810Glu)	CHD4 (D1799E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1675175	NM_001273.5(CHD4):c.5411A>G (p.Tyr1804Cys)	CHD4 (Y1793C +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 2872362	NM_001273.5(CHD4):c.5373A>G (p.Gln1791=)	CHD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3037369	NM_001273.5(CHD4):c.5362-3C>T	CHD4	Single nucleotide variant (intron variant)	CHD4-related disorder	GLikely benign
Select item 788654	NM_001273.5(CHD4):c.5361+8G>T	CHD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2894308	NM_001273.5(CHD4):c.5325A>G (p.Leu1775=)	CHD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 770409	NM_001273.5(CHD4):c.5292T>C (p.Pro1764=)	CHD4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 3053892	NM_001273.5(CHD4):c.5289G>A (p.Glu1763=)	CHD4	Single nucleotide variant (synonymous variant)	CHD4-related disorder	GLikely benign
Select item 2208744	NM_001273.5(CHD4):c.5285A>G (p.Asn1762Ser)	CHD4 (N1755S +2 more)	Single nucleotide variant (missense variant)	CHD4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2571730	NM_001273.5(CHD4):c.5276C>T (p.Ala1759Val)	CHD4 (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 (Y1747C +2 more)	Single nucleotide variant (missense variant)	CHD4-related disorder	GUncertain significance
Select item 2983362	NM_001273.5(CHD4):c.5230C>T (p.His1744Tyr)	CHD4 (H1737Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 761282	NM_001273.5(CHD4):c.5229-3T>C	CHD4	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1967977	NM_001273.5(CHD4):c.5228+9T>G	CHD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 982181	NM_001273.5(CHD4):c.5221A>G (p.Ile1741Val)	CHD4 (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	Single nucleotide variant (synonymous variant)	CHD4-related disorder +1 more	GBenign/Likely benign
Select item 1700380	NM_001273.5(CHD4):c.5192G>A (p.Arg1731Gln)	CHD4 (R1720Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 728490	NM_001273.5(CHD4):c.5178T>C (p.Tyr1726=)	CHD4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2499341	NM_001273.5(CHD4):c.5159C>T (p.Thr1720Ile)	CHD4 (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 (A1711V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 738731	NM_001273.5(CHD4):c.5120-9C>T	CHD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2642623	NM_001273.5(CHD4):c.5119+59G>T	CHD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2584569	NM_001273.5(CHD4):c.5119+6G>C	CHD4	Single nucleotide variant (intron variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 2499719	NM_001273.5(CHD4):c.5108G>A (p.Gly1703Asp)	CHD4 (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 (R1684H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3144137	NM_001273.5(CHD4):c.5044G>C (p.Asp1682His)	CHD4 (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 (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 (K1681R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178754	NM_001273.5(CHD4):c.4992AGA[3] (p.Glu1668del)	CHD4 (E1657del +2 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1050361	NM_001273.5(CHD4):c.5002G>C (p.Glu1668Gln)	CHD4 (E1657Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1033399	NM_001273.5(CHD4):c.4982-11A>G	CHD4	Single nucleotide variant (intron variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 2967015	NM_001273.5(CHD4):c.4982-15C>T	CHD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1655400	NM_001273.5(CHD4):c.4981+7G>A	CHD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 984535	NM_001273.5(CHD4):c.4980A>G (p.Lys1660=)	CHD4	Single nucleotide variant (synonymous variant)	Neurodevelopmental abnormality	GLikely benign
Select item 391103	NM_001273.5(CHD4):c.4979A>G (p.Lys1660Arg)	CHD4 (K1660R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1492945	NM_001273.5(CHD4):c.4963A>G (p.Ile1655Val)	CHD4 (I1648V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 521918	NM_001273.5(CHD4):c.4960C>A (p.Pro1654Thr)	CHD4 (P1654T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1304263	NM_001273.5(CHD4):c.4951G>C (p.Asp1651His)	CHD4 (D1640H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 770223	NM_001273.5(CHD4):c.4943C>T (p.Ser1648Leu)	CHD4 (S1648L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1311219	NM_001273.5(CHD4):c.4933G>A (p.Glu1645Lys)	CHD4 (E1634K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 740930	NM_001273.5(CHD4):c.4923A>C (p.Val1641=)	CHD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1460903	NM_001273.5(CHD4):c.4910G>A (p.Gly1637Asp)	CHD4 (G1626D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298026	NM_001273.5(CHD4):c.4909+20T>G	CHD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1911846	NM_001273.5(CHD4):c.4909+13A>C	CHD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2265251	NM_001273.5(CHD4):c.4909+1G>A	CHD4 (G1624D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 1695650	NM_001273.5(CHD4):c.4906A>G (p.Lys1636Glu)	CHD4 (K1623E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 382210	NM_001273.5(CHD4):c.4902G>T (p.Glu1634Asp)	CHD4 (E1634D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3144136	NM_001273.5(CHD4):c.4891A>G (p.Met1631Val)	CHD4 (M1618V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439989	NM_001273.5(CHD4):c.4883_4884del (p.Glu1628fs)	CHD4 (E1615fs +2 more)	Microsatellite (frameshift variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 2592967	NM_001273.5(CHD4):c.4873G>A (p.Glu1625Lys)	CHD4 (E1618K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 739570	NM_001273.5(CHD4):c.4842A>C (p.Gly1614=)	CHD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025891	NM_001273.5(CHD4):c.4834C>T (p.Pro1612Ser)	CHD4 (P1599S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1460891	NM_001273.5(CHD4):c.4832C>T (p.Pro1611Leu)	CHD4 (P1598L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 266123	NM_001273.5(CHD4):c.4822G>A (p.Val1608Ile)	CHD4 (V1608I +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GConflicting classifications of pathogenicity
Select item 2439988	NM_001273.5(CHD4):c.4810G>A (p.Asp1604Asn)	CHD4 (D1591N +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 2629324	NM_001273.5(CHD4):c.4801G>T (p.Ala1601Ser)	CHD4 (A1588S +2 more)	Single nucleotide variant (missense variant)	CHD4-related disorder	GUncertain significance
Select item 3020564	NM_001273.5(CHD4):c.4796C>T (p.Ala1599Val)	CHD4 (A1599V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1030330	NM_001273.5(CHD4):c.4780T>C (p.Cys1594Arg)	CHD4 (C1587R +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome +1 more	GUncertain significance
Select item 3056524	NM_001273.5(CHD4):c.4780-4del	CHD4	Deletion (intron variant)	CHD4-related disorder	GLikely benign
Select item 2428793	NM_001273.5(CHD4):c.4765G>A (p.Glu1589Lys)	CHD4 (E1576K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3144134	NM_001273.5(CHD4):c.4762C>T (p.Pro1588Ser)	CHD4 (P1581S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1049384	NM_001273.5(CHD4):c.4756A>G (p.Thr1586Ala)	CHD4 (T1573A +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance

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