ClinVar for MedGen (Select 1841517) - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664873	NM_016628.5(WAC):c.497+2T>G	WAC	Single nucleotide variant (splice donor variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GLikely pathogenic
Select item 2664788	NM_016628.5(WAC):c.1380_1383del (p.Asn461fs)	WAC (N358fs +2 more)	Deletion (frameshift variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GPathogenic
Select item 2637828	NM_016628.5(WAC):c.1349dup (p.Tyr450Ter)	WAC (Y347* +2 more)	Duplication (nonsense)	DeSanto-Shinawi syndrome due to WAC point mutation	GPathogenic
Select item 2627951	NM_016628.5(WAC):c.284dup (p.Tyr95Ter)	WAC (Y50* +1 more)	Duplication (frameshift variant +1 more)	DeSanto-Shinawi syndrome due to WAC point mutation	GPathogenic
Select item 2578527	NM_016628.5(WAC):c.1747-2A>G	WAC	Single nucleotide variant (splice acceptor variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GLikely pathogenic
Select item 2573095	NM_016628.5(WAC):c.1877T>A (p.Ile626Lys)	WAC (I523K +2 more)	Single nucleotide variant (missense variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GUncertain significance
Select item 2444361	NM_016628.5(WAC):c.610+2T>G	WAC	Single nucleotide variant (splice donor variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GLikely pathogenic
Select item 2438660	NM_016628.5(WAC):c.265_266del (p.Arg89fs)	WAC (R44fs +1 more)	Microsatellite (frameshift variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GPathogenic
Select item 2438554	NM_016628.5(WAC):c.1558A>G (p.Ser520Gly)	WAC (S417G +2 more)	Single nucleotide variant (missense variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GUncertain significance
Select item 2438553	NM_016628.5(WAC):c.665C>A (p.Ser222Tyr)	WAC (S177Y +1 more)	Single nucleotide variant (missense variant +1 more)	DeSanto-Shinawi syndrome due to WAC point mutation +2 more	GUncertain significance
Select item 2438552	NM_016628.5(WAC):c.1012A>G (p.Thr338Ala)	WAC (T235A +2 more)	Single nucleotide variant (missense variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GUncertain significance
Select item 2438551	NM_016628.5(WAC):c.1865G>A (p.Arg622Gln)	WAC (R519Q +2 more)	Single nucleotide variant (missense variant)	DeSanto-Shinawi syndrome due to WAC point mutation +1 more	GUncertain significance
Select item 2438550	NM_016628.5(WAC):c.1295C>T (p.Pro432Leu)	WAC (P329L +2 more)	Single nucleotide variant (missense variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GUncertain significance
Select item 2438548	NM_016628.5(WAC):c.1549C>T (p.Arg517Cys)	WAC (R414C +2 more)	Single nucleotide variant (missense variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GUncertain significance
Select item 2412806	NM_016628.5(WAC):c.1788del (p.His597fs)	WAC (H494fs +2 more)	Deletion (frameshift variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GPathogenic
Select item 1727239	NM_016628.5(WAC):c.464dup (p.Gln156fs)	WAC (Q111fs +1 more)	Duplication (frameshift variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GPathogenic
Select item 1727053	NM_016628.5(WAC):c.1830_1833dup (p.Val612fs)	WAC (V509fs +2 more)	Duplication (frameshift variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GPathogenic
Select item 1723734	NM_016628.5(WAC):c.1864C>T (p.Arg622Ter)	WAC (R519* +2 more)	Single nucleotide variant (nonsense)	DeSanto-Shinawi syndrome due to WAC point mutation +1 more	GPathogenic
Select item 1710204	NM_016628.5(WAC):c.207C>A (p.Tyr69Ter)	WAC (T27K +2 more)	Single nucleotide variant (missense variant +1 more)	DeSanto-Shinawi syndrome due to WAC point mutation	GPathogenic
Select item 1709606	NM_016628.5(WAC):c.469T>C (p.Trp157Arg)	WAC (W112R +1 more)	Single nucleotide variant (synonymous variant +1 more)	DeSanto-Shinawi syndrome due to WAC point mutation +1 more	GUncertain significance
Select item 1709504	NM_016628.5(WAC):c.272del (p.Gly91fs)	WAC (G46fs +1 more)	Deletion (frameshift variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GLikely pathogenic
Select item 1701731	NM_016628.5(WAC):c.1597A>G (p.Asn533Asp)	WAC (N430D +2 more)	Single nucleotide variant (missense variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GUncertain significance
Select item 1696676	NM_016628.5(WAC):c.472dup (p.Glu158fs)	WAC (E113fs +1 more)	Duplication (frameshift variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GLikely pathogenic
Select item 1693036	NM_016628.5(WAC):c.460G>A (p.Val154Ile)	WAC (V109I +1 more)	Single nucleotide variant (missense variant)	DeSanto-Shinawi syndrome due to WAC point mutation +1 more	GConflicting classifications of pathogenicity
Select item 1679352	NM_016628.5(WAC):c.1503dup (p.Asp502Ter)	WAC (D399* +2 more)	Duplication (nonsense)	DeSanto-Shinawi syndrome due to WAC point mutation	GPathogenic
Select item 1679141	NM_016628.5(WAC):c.1280_1281del (p.Ser427fs)	WAC (S324fs +2 more)	Microsatellite (frameshift variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GLikely pathogenic
Select item 1678817	NM_016628.5(WAC):c.140G>A (p.Arg47Gln)	WAC (R2Q +1 more)	Single nucleotide variant (missense variant)	DeSanto-Shinawi syndrome due to WAC point mutation +1 more	GConflicting classifications of pathogenicity
Select item 1526166	NM_016628.5(WAC):c.438del (p.Tyr147fs)	WAC (Y102fs +1 more)	Deletion (frameshift variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GLikely pathogenic
Select item 1343410	NM_016628.5(WAC):c.1424C>G (p.Ser475Ter)	WAC (S372* +2 more)	Single nucleotide variant (nonsense)	DeSanto-Shinawi syndrome due to WAC point mutation	Gnot provided
Select item 1343214	NM_016628.5(WAC):c.29_30del (p.Arg10fs)	WAC (R10fs)	Microsatellite (frameshift variant +1 more)	DeSanto-Shinawi syndrome due to WAC point mutation	GPathogenic
Select item 1335878	NM_016628.5(WAC):c.78+1G>A	LOC130003576, WAC	Single nucleotide variant (splice donor variant)	DeSanto-Shinawi syndrome due to WAC point mutation +1 more	Gnot provided
Select item 1334518	NM_016628.5(WAC):c.67C>T (p.Gln23Ter)	LOC130003576, WAC (Q23*)	Single nucleotide variant (nonsense +1 more)	DeSanto-Shinawi syndrome due to WAC point mutation	GLikely pathogenic
Select item 1333994	NM_016628.5(WAC):c.31C>T (p.Leu11Phe)	WAC (L11F)	Single nucleotide variant (missense variant +1 more)	DeSanto-Shinawi syndrome due to WAC point mutation	GUncertain significance
Select item 1325534	NM_016628.5(WAC):c.275-22319G>T	WAC	Single nucleotide variant (intron variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GUncertain significance
Select item 1325352	NM_016628.5(WAC):c.275-1G>A	WAC	Single nucleotide variant (splice acceptor variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GLikely pathogenic
Select item 1325351	NM_016628.5(WAC):c.1350T>G (p.Tyr450Ter)	WAC (Y347* +2 more)	Single nucleotide variant (nonsense)	DeSanto-Shinawi syndrome due to WAC point mutation	GLikely pathogenic
Select item 1323759	NM_016628.5(WAC):c.1233del (p.Ser412fs)	WAC (S309fs +2 more)	Deletion (frameshift variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GPathogenic
Select item 1321463	NM_016628.5(WAC):c.811C>T (p.Gln271Ter)	WAC (Q226* +1 more)	Single nucleotide variant (nonsense +1 more)	DeSanto-Shinawi syndrome due to WAC point mutation	GLikely pathogenic
Select item 1321462	NM_016628.5(WAC):c.1407del (p.Ser470fs)	WAC (S367fs +2 more)	Deletion (frameshift variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GLikely pathogenic
Select item 1305551	NM_016628.5(WAC):c.-3T>C	LOC130003574, WAC	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1031972	NM_016628.5(WAC):c.367A>C (p.Lys123Gln)	WAC (K123Q +1 more)	Single nucleotide variant (missense variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GUncertain significance
Select item 1030572	NM_016628.5(WAC):c.1101dup (p.Pro368fs)	WAC (P323fs +2 more)	Duplication (frameshift variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GPathogenic
Select item 989313	NM_016628.5(WAC):c.508C>T (p.Gln170Ter)	WAC (Q125* +1 more)	Single nucleotide variant (nonsense)	WAC-related neurodevelopmental disorder +1 more	GPathogenic
Select item 987235	NM_016628.5(WAC):c.139C>T (p.Arg47Ter)	WAC (R2* +1 more)	Single nucleotide variant (nonsense)	DeSanto-Shinawi syndrome due to WAC point mutation +1 more	GPathogenic
Select item 984374	NM_016628.5(WAC):c.1557-184_1747-188del	WAC	Deletion (splice acceptor variant +1 more)	DeSanto-Shinawi syndrome due to WAC point mutation	GPathogenic
Select item 917876	NM_016628.5(WAC):c.405G>A (p.Trp135Ter)	WAC (W135* +1 more)	Single nucleotide variant (nonsense)	DeSanto-Shinawi syndrome due to WAC point mutation	GPathogenic
Select item 817992	NM_016628.5(WAC):c.310del (p.His104fs)	WAC (H104fs +1 more)	Deletion (frameshift variant)	DeSanto-Shinawi syndrome due to WAC point mutation +1 more	GPathogenic
Select item 817803	NM_016628.5(WAC):c.670_673del (p.Thr224fs)	WAC (T179fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 811315	NM_016628.5(WAC):c.1470_1477del (p.Gln492fs)	WAC (Q389fs +2 more)	Deletion (frameshift variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GPathogenic
Select item 633580	NM_016628.5(WAC):c.381+4_381+7del	WAC	Microsatellite (splice donor variant)	DeSanto-Shinawi syndrome due to WAC point mutation +1 more	GConflicting classifications of pathogenicity
Select item 584445	NM_016628.5(WAC):c.1537C>T (p.Arg513Ter)	WAC (R513* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 522961	NM_016628.5(WAC):c.1746+1G>A	WAC	Single nucleotide variant (splice donor variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GLikely pathogenic
Select item 496764	NM_016628.5(WAC):c.1885_1886del (p.Leu629fs)	WAC (L629fs +2 more)	Deletion (frameshift variant)	DeSanto-Shinawi syndrome due to WAC point mutation	Gnot provided
Select item 496763	NM_016628.5(WAC):c.1648C>T (p.Arg550Ter)	WAC (R505* +2 more)	Single nucleotide variant (nonsense)	DeSanto-Shinawi syndrome due to WAC point mutation +1 more	GPathogenic
Select item 438308	NM_016628.5(WAC):c.1437+1G>A	WAC	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 431093	NM_016628.5(WAC):c.498-2A>G	WAC	Single nucleotide variant (splice acceptor variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GPathogenic
Select item 426162	NM_016628.5(WAC):c.1837C>T (p.Arg613Ter)	WAC (R568* +2 more)	Single nucleotide variant (nonsense)	DeSanto-Shinawi syndrome due to WAC point mutation +1 more	GPathogenic
Select item 280400	NM_016628.5(WAC):c.451C>T (p.Arg151Ter)	WAC (R151* +1 more)	Single nucleotide variant (nonsense)	DeSanto-Shinawi syndrome due to WAC point mutation +1 more	GPathogenic
Select item 219144	NM_016628.5(WAC):c.112del (p.Ser38fs)	WAC (S38fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 219143	NM_016628.5(WAC):c.1852C>T (p.Gln618Ter)	WAC (Q618* +2 more)	Single nucleotide variant (nonsense)	DeSanto-Shinawi syndrome due to WAC point mutation	GPathogenic
Select item 219142	NM_016628.5(WAC):c.374C>A (p.Ser125Ter)	WAC (S125* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 219141	NM_016628.5(WAC):c.267_268dup (p.Asp90fs)	WAC (D45fs +1 more)	Duplication (frameshift variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GPathogenic
Select item 219140	NM_016628.5(WAC):c.1721G>A (p.Trp574Ter)	WAC (W574* +2 more)	Single nucleotide variant (nonsense)	DeSanto-Shinawi syndrome due to WAC point mutation	GPathogenic
Select item 219139	NM_016628.5(WAC):c.263_266del (p.Glu88fs)	WAC (E88fs +1 more)	Microsatellite (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic

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Items: 64