"WAC-related disorder"[Disease/phenotype] AND "PreventionGenetics, par - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3053577	NM_016628.5(WAC):c.66G>T (p.Ser22=)	LOC130003576, WAC	Single nucleotide variant (synonymous variant +1 more)	WAC-related disorder	GLikely benign
Select item 3035983	NM_016628.5(WAC):c.96G>A (p.Ser32=)	WAC	Single nucleotide variant (synonymous variant +1 more)	WAC-related disorder	GLikely benign
Select item 1265192	NM_016628.5(WAC):c.284A>G (p.Tyr95Cys)	WAC (Y50C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 752763	NM_016628.5(WAC):c.324T>C (p.His108=)	WAC	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 1214524	NM_016628.5(WAC):c.736G>C (p.Val246Leu)	WAC (V201L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 3031043	NM_016628.5(WAC):c.886T>A (p.Ser296Thr)	WAC (S251T +1 more)	Single nucleotide variant (missense variant +1 more)	WAC-related disorder	GLikely benign
Select item 1177795	NM_016628.5(WAC):c.1414C>A (p.Pro472Thr)	WAC (P369T +2 more)	Single nucleotide variant (missense variant)	WAC-related disorder +1 more	GLikely benign
Select item 2630688	NM_016628.5(WAC):c.1474_1475del (p.Gln492fs)	WAC (Q389fs +2 more)	Microsatellite (frameshift variant)	WAC-related disorder	GPathogenic
Select item 3051637	NM_016628.5(WAC):c.1589A>G (p.His530Arg)	WAC (H427R +2 more)	Single nucleotide variant (missense variant)	WAC-related disorder	GUncertain significance
Select item 2511028	NM_016628.5(WAC):c.1624G>A (p.Val542Ile)	WAC (V439I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1248094	NM_016628.5(WAC):c.1777A>G (p.Met593Val)	WAC (M490V +2 more)	Single nucleotide variant (missense variant)	WAC-related disorder +1 more	GBenign/Likely benign
Select item 2629403	NM_016628.5(WAC):c.1792A>G (p.Met598Val)	WAC (M495V +2 more)	Single nucleotide variant (missense variant)	WAC-related disorder	GUncertain significance
Select item 2631198	NM_016628.5(WAC):c.1804T>A (p.Cys602Ser)	WAC (C499S +2 more)	Single nucleotide variant (missense variant)	WAC-related disorder	GUncertain significance
Select item 709566	NM_016628.5(WAC):c.1866A>G (p.Arg622=)	WAC	Single nucleotide variant (synonymous variant)	WAC-related disorder +1 more	GBenign
Select item 3060411	NM_016628.5(WAC):c.1875-4dup	WAC	Duplication (intron variant)	WAC-related disorder	GBenign
Select item 1333044	NM_016628.5(WAC):c.1923T>C (p.Asn641=)	WAC	Single nucleotide variant (synonymous variant)	WAC-related disorder +1 more	GLikely benign