ClinVar for MedGen (Select 336388) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1338765	NM_004625.4:c.(71+1_72-1)_(298+1_299-1)del	WNT7A	Deletion	Schinzel phocomelia syndrome	GPathogenic
Select item 1286438	NM_004625.4(WNT7A):c.298+37C>A	WNT7A	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 253008	NM_004625.4(WNT7A):c.304C>T (p.Arg102Trp)	LOC126806608, WNT7A (R102W)	Single nucleotide variant (missense variant)	Schinzel phocomelia syndrome	GPathogenic
Select item 40302	NM_004625.4(WNT7A):c.214G>A (p.Glu72Lys)	WNT7A (E72K)	Single nucleotide variant (missense variant)	Schinzel phocomelia syndrome	GPathogenic
Select item 40130	NM_004625.4(WNT7A):c.664C>T (p.Arg222Trp)	WNT7A (R222W)	Single nucleotide variant (missense variant)	Schinzel phocomelia syndrome	GPathogenic
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 8060	NM_004625.4(WNT7A):c.874C>T (p.Arg292Cys)	WNT7A (R292C)	Single nucleotide variant (missense variant)	Schinzel phocomelia syndrome	GLikely pathogenic

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