ClinVar for MedGen (Select 908218) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3384132	NM_016628.5(WAC):c.1048C>T (p.Gln350Ter)	WAC (Q247* +2 more)	Single nucleotide variant (nonsense)	DeSanto-Shinawi syndrome	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 2505071	NM_016628.5(WAC):c.1738G>A (p.Glu580Lys)	WAC (E477K +2 more)	Single nucleotide variant (missense variant)	DeSanto-Shinawi syndrome	Gnot provided
Select item 1698975	NM_016628.5(WAC):c.1631dup (p.Gln545fs)	WAC (Q442fs +2 more)	Duplication (frameshift variant)	DeSanto-Shinawi syndrome	GPathogenic
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 1335878	NM_016628.5(WAC):c.78+1G>A	LOC130003576, WAC	Single nucleotide variant (splice donor variant)	DeSanto-Shinawi syndrome +1 more	Gnot provided
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 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 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