"Eurofins Ntd Llc (ga)"[submitter] AND "WNT7A"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 497790	NM_004625.4(WNT7A):c.1028C>T (p.Thr343Met)	WNT7A (T343M)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 197238	NM_004625.4(WNT7A):c.861G>A (p.Val287=)	WNT7A	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 35537	NM_004625.4(WNT7A):c.610G>A (p.Gly204Ser)	WNT7A (G204S)	Single nucleotide variant (missense variant)	Schinzel phocomelia syndrome +1 more	GPathogenic/Likely pathogenic
Select item 500584	NM_004625.4(WNT7A):c.555C>T (p.Asn185=)	LOC126806608, WNT7A	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 288358	NM_004625.4(WNT7A):c.399C>T (p.Cys133=)	LOC126806608, WNT7A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 285917	NM_004625.4(WNT7A):c.269G>A (p.Arg90His)	WNT7A (R90H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 497708	NM_004625.4(WNT7A):c.213C>T (p.Asp71=)	WNT7A	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 281770	NM_004625.4(WNT7A):c.75C>T (p.Gly25=)	WNT7A	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 291033	NM_004625.4(WNT7A):c.72-8C>T	WNT7A	Single nucleotide variant (intron variant)	not provided	GUncertain significance