"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "WDR45B" - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 774726	NM_019613.4(WDR45B):c.942C>T (p.Asp314=)	WDR45B	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures +1 more	GBenign/Likely benign
Select item 713833	NM_019613.4(WDR45B):c.918C>T (p.Asn306=)	WDR45B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719114	NM_019613.4(WDR45B):c.747C>T (p.Ser249=)	WDR45B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 792993	NM_019613.4(WDR45B):c.78G>A (p.Ala26=)	WDR45B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719573	NM_019613.4(WDR45B):c.68-9C>T	WDR45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 725326	NM_019613.4(WDR45B):c.45C>T (p.Tyr15=)	WDR45B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 782790	NM_019613.4(WDR45B):c.17G>A (p.Cys6Tyr)	WDR45B (C6Y)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3243134	NC_000017.10:g.(?_79477716)_(80901020_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 3242977	NC_000017.10:g.(?_80039865)_(80901020_?)dup	CCDC57, CD7 +18 more	Duplication	Epileptic encephalopathy	GUncertain significance
Select item 2424500	NC_000017.10:g.(?_79477716)_(80900339_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 2423509	NC_000017.10:g.(?_80332201)_(80758892_?)dup	CYBC1, FN3K +10 more	Duplication	not provided	GUncertain significance