C2931461[trait identifier] AND "HudsonAlpha Institute for Biotechnolog - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 689611	NM_145331.3(MAP3K7):c.248G>A (p.Arg83His)	MAP3K7 (R83H)	Single nucleotide variant (missense variant)	Cardiospondylocarpofacial syndrome	GUncertain significance
Select item 929459	NM_145331.3(MAP3K7):c.143G>A (p.Gly48Glu)	MAP3K7 (G48E)	Single nucleotide variant (missense variant)	Cardiospondylocarpofacial syndrome	GLikely pathogenic