ClinVar for MedGen (Select 934655) - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3061921	NM_001273.5(CHD4):c.4370+5G>A	CHD4	Single nucleotide variant (intron variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 2691876	NM_001273.5(CHD4):c.4165C>A (p.Arg1389Ser)	CHD4 (R1376S +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 2690919	NM_001273.5(CHD4):c.997G>T (p.Asp333Tyr)	CHD4 (D326Y +1 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GLikely pathogenic
Select item 2664757	NM_001273.5(CHD4):c.1117T>C (p.Cys373Arg)	CHD4 (C360R +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GLikely pathogenic
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 2584494	NM_001273.5(CHD4):c.2921_2922del (p.Val974fs)	CHD4 (V961fs +2 more)	Microsatellite (frameshift variant)	Sifrim-Hitz-Weiss syndrome	GLikely pathogenic
Select item 2578331	NM_001273.5(CHD4):c.1895_1896del	CHD4	Microsatellite (splice acceptor variant)	Sifrim-Hitz-Weiss syndrome	GLikely pathogenic
Select item 2571624	NM_001273.5(CHD4):c.2993A>T (p.Asn998Ile)	CHD4 (N985I +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 2497818	NM_001273.5(CHD4):c.4621C>G (p.Pro1541Ala)	CHD4 (P1528A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2441891	NM_001273.5(CHD4):c.995C>T (p.Ser332Phe)	CHD4 (S325F +1 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	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 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 2439987	NM_001273.5(CHD4):c.4138C>T (p.Arg1380Cys)	CHD4 (R1367C +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 2439986	NM_001273.5(CHD4):c.304C>T (p.Arg102Cys)	CHD4 (R102C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2439063	NM_001273.5(CHD4):c.3017T>G (p.Val1006Gly)	CHD4 (V1006G +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GLikely pathogenic
Select item 2412787	NM_001273.5(CHD4):c.3653T>C (p.Ile1218Thr)	CHD4 (I1205T +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GLikely pathogenic
Select item 1806260	NM_001273.5(CHD4):c.1573G>A (p.Ala525Thr)	CHD4 (A512T +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 1806223	NM_001273.5(CHD4):c.3338A>G (p.Asn1113Ser)	CHD4 (N1100S +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GLikely pathogenic
Select item 1805717	NM_001273.5(CHD4):c.257C>T (p.Ser86Phe)	CHD4 (S79F +1 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 1805532	NM_001273.5(CHD4):c.1075G>A (p.Val359Met)	CHD4 (V352M +1 more)	Single nucleotide variant (missense variant +1 more)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 1805510	NM_001273.5(CHD4):c.4612C>T (p.Pro1538Ser)	CHD4 (P1525S +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 1805504	NM_001273.5(CHD4):c.1822A>T (p.Met608Leu)	CHD4 (M595L +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 1805406	NM_001273.5(CHD4):c.4018C>T (p.Arg1340Cys)	CHD4 (R1327C +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GPathogenic
Select item 1804941	NM_001273.5(CHD4):c.3407C>T (p.Ala1136Val)	CHD4 (A1123V +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 1804938	NM_001273.5(CHD4):c.2507G>A (p.Arg836His)	CHD4 (R823H +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GLikely pathogenic
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 1804883	NM_001273.5(CHD4):c.2366A>G (p.Asn789Ser)	CHD4 (N776S +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GLikely pathogenic
Select item 1802520	NM_001273.5(CHD4):c.3252T>G (p.Asp1084Glu)	CHD4 (D1071E +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	Gnot provided
Select item 1801333	NM_001273.5(CHD4):c.809C>T (p.Ala270Val)	CHD4 (A263V +1 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 1709214	NM_001273.5(CHD4):c.4003A>C (p.Lys1335Gln)	CHD4 (K1322Q +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GLikely pathogenic
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 1527960	NM_001273.5(CHD4):c.3529C>T (p.Arg1177Cys)	CHD4 (R1164C +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GPathogenic/Likely pathogenic
Select item 1333841	NM_001273.5(CHD4):c.4507C>T (p.Arg1503Cys)	CHD4 (R1490C +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 1333566	NM_001273.5(CHD4):c.2438G>A (p.Arg813His)	CHD4 (R800H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1324066	NM_001273.5(CHD4):c.2313+2T>C	CHD4	Single nucleotide variant (splice donor variant)	Sifrim-Hitz-Weiss syndrome	GLikely pathogenic
Select item 1301898	NM_001273.5(CHD4):c.2648C>T (p.Ser883Phe)	CHD4 (S870F +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GLikely pathogenic
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 1209824	NM_001273.5(CHD4):c.417G>T (p.Glu139Asp)	CHD4 (E132D +1 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome +1 more	GBenign
Select item 1209823	NM_001273.5(CHD4):c.1362C>T (p.Val454=)	CHD4	Single nucleotide variant (synonymous variant)	Sifrim-Hitz-Weiss syndrome +1 more	GBenign
Select item 1209740	NM_001273.5(CHD4):c.1548C>T (p.Pro516=)	CHD4	Single nucleotide variant (synonymous variant)	Sifrim-Hitz-Weiss syndrome +1 more	GBenign
Select item 1173088	NM_001273.5(CHD4):c.3547C>T (p.Arg1183Cys)	CHD4 (R1170C +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GLikely pathogenic
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
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 1033398	NM_001273.5(CHD4):c.3308A>C (p.Asn1103Thr)	CHD4 (N1096T +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 1033397	NM_001273.5(CHD4):c.239G>A (p.Arg80Gln)	CHD4 (R80Q)	Single nucleotide variant (missense variant +1 more)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 1033396	NM_001273.5(CHD4):c.100+11C>G	CHD4	Single nucleotide variant (intron variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 1030330	NM_001273.5(CHD4):c.4780T>C (p.Cys1594Arg)	CHD4 (C1587R +2 more)	Single nucleotide variant (missense variant)	CHD4-related condition +1 more	GUncertain significance
Select item 1030329	NM_001273.5(CHD4):c.446A>T (p.Lys149Ile)	CHD4 (K142I +1 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 1030328	NM_001273.5(CHD4):c.3977A>T (p.Gln1326Leu)	CHD4 (Q1319L +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 1030327	NM_001273.5(CHD4):c.3548G>A (p.Arg1183His)	CHD4 (R1170H +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GLikely pathogenic
Select item 1030326	NM_001273.5(CHD4):c.3539T>G (p.Val1180Gly)	CHD4 (V1167G +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GLikely pathogenic
Select item 1030325	NM_001273.5(CHD4):c.3517C>T (p.Arg1173Trp)	CHD4 (R1160W +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GLikely pathogenic
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 984643	NM_001271.4(CHD2):c.4280del (p.Pro1427fs)	CHD2 (P1427fs)	Deletion (frameshift variant)	Sifrim-Hitz-Weiss syndrome	GPathogenic
Select item 984642	NM_001273.5(CHD4):c.3409A>C (p.Thr1137Pro)	CHD4 (T1124P +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GLikely pathogenic
Select item 983501	NM_001273.5(CHD4):c.2366A>T (p.Asn789Ile)	CHD4 (N776I +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GLikely pathogenic
Select item 977795	NM_001273.5(CHD4):c.2189A>G (p.Gln730Arg)	CHD4 (Q717R +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GLikely pathogenic
Select item 976740	NM_001273.5(CHD4):c.637A>G (p.Ser213Gly)	CHD4 (S206G +1 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GLikely pathogenic
Select item 975671	NM_001273.5(CHD4):c.3280G>A (p.Glu1094Lys)	CHD4 (E1081K +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 931924	NM_001273.5(CHD4):c.4674A>G (p.Pro1558=)	CHD4	Single nucleotide variant (synonymous variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 931910	NM_001273.5(CHD4):c.2478T>G (p.Asn826Lys)	CHD4 (N819K +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 828192	NM_001273.5(CHD4):c.2978A>G (p.Asn993Ser)	CHD4 (N980S +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GLikely pathogenic
Select item 802815	NM_001273.5(CHD4):c.3403C>G (p.Leu1135Val)	CHD4 (L1122V +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GLikely pathogenic
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 764762	NM_001273.5(CHD4):c.5529C>T (p.Asn1843=)	CHD4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 619984	NM_001273.5(CHD4):c.2569A>T (p.Ile857Phe)	CHD4 (I857F +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 417890	NM_001273.5(CHD4):c.3745T>G (p.Tyr1249Asp)	CHD4 (Y1249D +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GLikely pathogenic
Select item 266128	NM_001273.5(CHD4):c.3443G>T (p.Trp1148Leu)	CHD4 (W1148L +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GPathogenic
Select item 266127	NM_001273.5(CHD4):c.3518G>T (p.Arg1173Leu)	CHD4 (R1173L +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GPathogenic
Select item 266126	NM_001273.5(CHD4):c.3380G>A (p.Arg1127Gln)	CHD4 (R1127Q +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GPathogenic
Select item 266125	NM_001273.5(CHD4):c.2552C>A (p.Ser851Tyr)	CHD4 (S851Y +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GPathogenic
Select item 266124	NM_001273.5(CHD4):c.3203G>A (p.Arg1068His)	CHD4 (R1068H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
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

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Items: 75