"Eurofins Ntd Llc (ga)"[submitter] AND "WNT5A"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 283830	NM_003392.7(WNT5A):c.839G>A (p.Ser280Asn)	WNT5A (S280N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 282988	NM_003392.7(WNT5A):c.819G>A (p.Ala273=)	WNT5A	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 597732	NM_003392.7(WNT5A):c.779G>T (p.Arg260Leu)	WNT5A (R260L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 197214	NM_003392.7(WNT5A):c.588C>T (p.Phe196=)	WNT5A	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 597718	NM_003392.7(WNT5A):c.496C>T (p.Arg166Cys)	WNT5A (R166C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593946	NM_003392.7(WNT5A):c.427G>A (p.Ala143Thr)	WNT5A (A143T +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 497264	NM_003392.7(WNT5A):c.417C>T (p.Tyr139=)	WNT5A	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 283810	NM_003392.7(WNT5A):c.141-8C>T	WNT5A	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 498867	NM_003392.7(WNT5A):c.104C>T (p.Ser35Phe)	WNT5A (S35F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 287634	NM_003392.7(WNT5A):c.14T>C (p.Ile5Thr)	WNT5A (I5T)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal dominant Robinow syndrome 1 +2 more	GBenign/Likely benign