ClinVar for MedGen (Select 444060) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065948	NM_145331.3(MAP3K7):c.124G>T (p.Val42Phe)	MAP3K7 (V42F)	Single nucleotide variant (missense variant)	Cardiospondylocarpofacial syndrome	GUncertain significance
Select item 1806063	NM_145331.3(MAP3K7):c.631G>A (p.Asp211Asn)	MAP3K7 (D211N)	Single nucleotide variant (missense variant)	Cardiospondylocarpofacial syndrome	GConflicting classifications of pathogenicity
Select item 1341502	NM_145331.3(MAP3K7):c.616T>G (p.Tyr206Asp)	MAP3K7 (Y206D)	Single nucleotide variant (missense variant)	Cardiospondylocarpofacial syndrome	GPathogenic
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 1031196	NM_145331.3(MAP3K7):c.868-17T>A	MAP3K7	Single nucleotide variant (intron variant)	Cardiospondylocarpofacial syndrome	GUncertain significance
Select item 992915	NM_145331.3(MAP3K7):c.632A>G (p.Asp211Gly)	MAP3K7 (D211G)	Single nucleotide variant (missense variant)	Cardiospondylocarpofacial syndrome	GUncertain significance
Select item 974910	NM_145331.3(MAP3K7):c.737-7A>G	MAP3K7	Single nucleotide variant (intron variant)	Cardiospondylocarpofacial syndrome +1 more	GPathogenic
Select item 929459	NM_145331.3(MAP3K7):c.143G>A (p.Gly48Glu)	MAP3K7 (G48E)	Single nucleotide variant (missense variant)	Cardiospondylocarpofacial syndrome	GLikely pathogenic
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 684731	NM_145331.3(MAP3K7):c.122TTG[1] (p.Val42del)	MAP3K7 (V42del)	Microsatellite (inframe_deletion)	Cardiospondylocarpofacial syndrome	GLikely pathogenic
Select item 264705	NM_145331.3(MAP3K7):c.721T>A (p.Trp241Arg)	MAP3K7 (W241R)	Single nucleotide variant (missense variant)	Cardiospondylocarpofacial syndrome	GPathogenic
Select item 264704	NM_145331.3(MAP3K7):c.145GTT[1] (p.Val50del)	MAP3K7 (V50del)	Microsatellite (inframe_deletion)	not provided +1 more	GPathogenic
Select item 264703	NM_145331.3(MAP3K7):c.328G>T (p.Gly110Cys)	MAP3K7 (G110C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 264702	NM_145331.3(MAP3K7):c.130_135del (p.Arg44_Gly45del)	MAP3K7	Deletion (inframe_deletion)	Cardiospondylocarpofacial syndrome	GPathogenic