C5562061[trait identifier] AND "MVZ Medizinische Genetik Mainz"[submit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066216	NM_001042424.3(NSD2):c.-29-2A>G	NSD2	Single nucleotide variant (splice acceptor variant)	Rauch-Steindl syndrome	GUncertain significance
Select item 2692316	NM_001042424.3(NSD2):c.3277G>T (p.Val1093Phe)	NSD2 (V1093F)	Single nucleotide variant (missense variant)	Rauch-Steindl syndrome	GLikely pathogenic
Select item 3256648	NM_001042424.3(NSD2):c.3338A>G (p.Asp1113Gly)	NSD2 (D1113G)	Single nucleotide variant (missense variant)	Rauch-Steindl syndrome	GUncertain significance

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