ClinVar for MedGen (Select 934664) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1173089	NM_145331.3(MAP3K7):c.815C>A (p.Ser272Tyr)	MAP3K7 (S272Y)	Single nucleotide variant (missense variant)	Cardiospondylocarpofacial syndrome +1 more	GLikely pathogenic
Select item 1031662	NM_145331.3(MAP3K7):c.1356+9A>G	MAP3K7	Single nucleotide variant (intron variant)	Frontometaphyseal dysplasia 2	GUncertain significance
Select item 989284	NM_145331.3(MAP3K7):c.1351G>A (p.Gly451Ser)	MAP3K7 (G424S +1 more)	Single nucleotide variant (missense variant)	Frontometaphyseal dysplasia 2	GUncertain significance
Select item 801006	NM_145331.3(MAP3K7):c.608-1G>A	MAP3K7	Single nucleotide variant (splice acceptor variant)	Frontometaphyseal dysplasia 2	GLikely pathogenic
Select item 264701	NM_145331.3(MAP3K7):c.502G>C (p.Gly168Arg)	MAP3K7 (G168R)	Single nucleotide variant (missense variant)	Frontometaphyseal dysplasia 2	GPathogenic
Select item 264700	NM_145331.3(MAP3K7):c.299T>A (p.Val100Glu)	MAP3K7 (V100E)	Single nucleotide variant (missense variant)	Frontometaphyseal dysplasia 2	GPathogenic
Select item 264699	NM_145331.3(MAP3K7):c.208G>C (p.Glu70Gln)	MAP3K7 (E70Q)	Single nucleotide variant (missense variant)	Frontometaphyseal dysplasia 2	GPathogenic
Select item 264698	NM_145331.3(MAP3K7):c.1535C>T (p.Pro512Leu)	MAP3K7 (P485L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity

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