C3539495[trait identifier] AND "Paris Brain Institute, Inserm - ICM"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 988994	NM_015214.3(DDHD2):c.724C>T (p.Arg242Cys)	DDHD2 (R212C +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GConflicting classifications of pathogenicity
Select item 540290	NM_015214.3(DDHD2):c.725G>A (p.Arg242His)	DDHD2 (R242H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GConflicting classifications of pathogenicity
Select item 452548	NM_015214.3(DDHD2):c.985C>T (p.Arg329Ter)	DDHD2 (R329* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 988995	NM_015214.3(DDHD2):c.1529G>A (p.Gly510Glu)	DDHD2 (G480E +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GPathogenic
Select item 39679	NM_015214.3(DDHD2):c.1978G>C (p.Asp660His)	DDHD2 (D660H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54 +5 more	GPathogenic/Likely pathogenic
Select item 988996	NC_000008.10:g.(?_38090513)_(38117639_?)del	DDHD2	Deletion	Hereditary spastic paraplegia 54	GPathogenic

ClinVar