"PreventionGenetics, part of Exact Sciences"[submitter] AND "WASHC4"[g - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3040417	NM_015275.3(WASHC4):c.-5G>C	LOC130008642, WASHC4	Single nucleotide variant (5 prime UTR variant)	WASHC4-related disorder	GLikely benign
Select item 742318	NM_015275.3(WASHC4):c.49G>A (p.Asp17Asn)	LOC130008643, WASHC4 (D17N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3055677	NM_015275.3(WASHC4):c.112T>C (p.Tyr38His)	WASHC4 (Y38H)	Single nucleotide variant (missense variant)	WASHC4-related disorder	GBenign
Select item 714546	NM_015275.3(WASHC4):c.117C>G (p.Thr39=)	WASHC4	Single nucleotide variant (synonymous variant)	WASHC4-related disorder +1 more	GBenign/Likely benign
Select item 435575	NM_015275.3(WASHC4):c.866C>T (p.Ala289Val)	WASHC4 (A289V)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 225042	NM_015275.3(WASHC4):c.878G>A (p.Arg293Gln)	WASHC4 (R293Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3039960	NM_015275.3(WASHC4):c.1444C>T (p.Leu482Phe)	WASHC4 (L482F +1 more)	Single nucleotide variant (missense variant)	WASHC4-related disorder	GLikely benign
Select item 435588	NM_015275.3(WASHC4):c.2159A>G (p.Asn720Ser)	WASHC4 (N720S +1 more)	Single nucleotide variant (missense variant)	WASHC4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 435579	NM_015275.3(WASHC4):c.2465A>G (p.His822Arg)	WASHC4 (H822R +1 more)	Single nucleotide variant (missense variant)	WASHC4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 780151	NM_015275.3(WASHC4):c.2868A>G (p.Leu956=)	WASHC4	Single nucleotide variant (synonymous variant)	WASHC4-related disorder +1 more	GBenign
Select item 3058359	NM_015275.3(WASHC4):c.3333G>A (p.Lys1111=)	WASHC4	Single nucleotide variant (synonymous variant)	WASHC4-related disorder	GLikely benign
Select item 796868	NM_015275.3(WASHC4):c.3339G>A (p.Leu1113=)	WASHC4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign