"Revvity Omics, Revvity"[submitter] AND "DDHD2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1972264	NM_015214.3(DDHD2):c.1031G>A (p.Gly344Asp)	DDHD2 (G314D +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2439662	NM_015214.3(DDHD2):c.1901delinsTCTGTGGCAGTTAA (p.Thr634delinsIleCysGlySerTer)	DDHD2	Indel (nonsense +1 more)	Hereditary spastic paraplegia 54	GLikely pathogenic