ClinVar for MedGen (Select 440845) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664721	NM_003394.4(WNT10B):c.115G>T (p.Glu39Ter)	WNT10B (E39*)	Single nucleotide variant (nonsense)	Split hand-foot malformation 6	GLikely pathogenic
Select item 2502298	NM_003394.4(WNT10B):c.53T>A (p.Leu18Gln)	WNT10B (L18Q)	Single nucleotide variant (missense variant)	Split hand-foot malformation 6	GLikely pathogenic
Select item 1895401	NM_003394.4(WNT10B):c.337G>C (p.Gly113Arg)	WNT10B (G113R)	Single nucleotide variant (missense variant)	Split hand-foot malformation 6	GUncertain significance
Select item 1698374	NM_003394.4(WNT10B):c.499_500del (p.Leu167fs)	WNT10B (L167fs)	Deletion (frameshift variant)	Split hand-foot malformation 6	GPathogenic
Select item 1695395	NM_003394.4(WNT10B):c.741del (p.Lys246_Cys247insTer)	WNT10B	Deletion (nonsense)	Split hand-foot malformation 6	GPathogenic
Select item 1333232	NM_003394.4(WNT10B):c.117_136del (p.Glu39fs)	WNT10B (E39fs)	Deletion (frameshift variant)	Split hand-foot malformation 6	GPathogenic
Select item 1175136	NM_003394.4(WNT10B):c.1059C>T (p.His353=)	WNT10B	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 8 +2 more	GBenign
Select item 638164	NM_003394.4(WNT10B):c.257A>C (p.Gln86Pro)	WNT10B (Q86P)	Single nucleotide variant (missense variant)	Split hand-foot malformation 6	GLikely pathogenic
Select item 634648	NM_003394.4(WNT10B):c.949T>A (p.Phe317Ile)	WNT10B (F317I)	Single nucleotide variant (missense variant)	Split hand-foot malformation 6	GLikely pathogenic
Select item 634647	NM_003394.4(WNT10B):c.817dup (p.Ala273fs)	WNT10B (A273fs)	Duplication (frameshift variant)	Tooth agenesis, selective, 8	GUncertain significance
Select item 634646	NM_003394.4(WNT10B):c.746G>T (p.Cys249Phe)	WNT10B (C249F)	Single nucleotide variant (missense variant)	Split hand-foot malformation 6	GLikely pathogenic
Select item 634645	NM_003394.4(WNT10B):c.817del (p.Ala273fs)	WNT10B (A273fs)	Deletion (frameshift variant)	Split hand-foot malformation 6	GPathogenic
Select item 623323	NM_003394.4(WNT10B):c.290T>C (p.Leu97Pro)	WNT10B (L97P)	Single nucleotide variant (missense variant)	Split hand-foot malformation 6	GUncertain significance
Select item 599263	NM_003394.4(WNT10B):c.689ACA[2] (p.Asn232del)	WNT10B (N232del)	Microsatellite (inframe_deletion)	Split hand-foot malformation 6	GPathogenic
Select item 545118	NM_003394.4(WNT10B):c.338-1G>C	WNT10B	Single nucleotide variant (splice acceptor variant)	Split hand-foot malformation 6	GPathogenic/Likely pathogenic
Select item 522440	NM_003394.4(WNT10B):c.676C>T (p.Arg226Ter)	WNT10B (R226*)	Single nucleotide variant (nonsense)	Split hand-foot malformation 6	GLikely pathogenic
Select item 493116	NM_003394.4(WNT10B):c.995G>A (p.Arg332Gln)	WNT10B (R332Q)	Single nucleotide variant (missense variant)	Split hand-foot malformation 6 +1 more	GUncertain significance
Select item 30237	NM_003394.4(WNT10B):c.458_461dup (p.Asp155fs)	WNT10B (D155fs)	Duplication (frameshift variant)	Split hand-foot malformation 6	GPathogenic
Select item 7630	NM_003394.4(WNT10B):c.994C>T (p.Arg332Trp)	WNT10B (R332W)	Single nucleotide variant (missense variant)	not provided	GPathogenic