"Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic C - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1703112	NM_014991.6(WDFY3):c.10537T>G (p.Leu3513Val)	WDFY3 (L3513V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1334627	NM_014991.6(WDFY3):c.9496C>T (p.Arg3166Ter)	WDFY3 (R3166*)	Single nucleotide variant (nonsense)	Microcephaly 18, primary, autosomal dominant	GLikely pathogenic
Select item 2429083	NM_014991.6(WDFY3):c.8062T>G (p.Leu2688Val)	WDFY3 (L2688V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235760	NM_014991.6(WDFY3):c.4229G>T (p.Gly1410Val)	WDFY3 (G1410V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710413	NM_014991.6(WDFY3):c.2429+5T>G	WDFY3, WDFY3-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1334590	NM_014991.6(WDFY3):c.952C>T (p.Leu318Phe)	WDFY3 (L318F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676470	NM_014991.6(WDFY3):c.4136C>G (p.Ser1379Cys)	WDFY3 (S1379C)	Single nucleotide variant	not provided	GUncertain significance
Select item 1676439	NM_014991.6(WDFY3):c.9820A>G (p.Ile3274Val)	WDFY3 (I3274V)	Single nucleotide variant	not provided	GUncertain significance

ClinVar