"GeneDx"[submitter] AND "MBD4"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1277442	NM_001276270.2(MBD4):c.1648-173T>G	MBD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257690	NM_001276270.2(MBD4):c.1544-218T>C	MBD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236364	NM_001276270.2(MBD4):c.1543+14C>T	MBD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262431	NM_001276270.2(MBD4):c.1395C>T (p.Gly465=)	MBD4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1289898	NM_001276270.2(MBD4):c.1394-54A>G	MBD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294890	NM_001276270.2(MBD4):c.1394-140G>A	MBD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283624	NM_001276270.2(MBD4):c.1393+109G>A	MBD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1336001	NM_001276270.2(MBD4):c.1382A>G (p.Asn461Ser)	MBD4 (N149S +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1258359	NM_001276270.2(MBD4):c.1184-57C>G	MBD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266648	NM_001276270.2(MBD4):c.1036G>A (p.Glu346Lys)	MBD4 (E346K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1268570	NM_001276270.2(MBD4):c.1024T>C (p.Ser342Pro)	MBD4 (S342P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1236752	NM_001276270.2(MBD4):c.817G>A (p.Ala273Thr)	MBD4 (A273T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1238212	NM_001276270.2(MBD4):c.336-180A>T	MBD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249121	NM_001276270.2(MBD4):c.335+27T>C	MBD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3365789	NC_000003.12:g.129439794G>A	IFT122, LOC129937550 +1 more (R14C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance