"OMIM"[submitter] AND "DDHD2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 39681	NM_015214.3(DDHD2):c.859C>T (p.Arg287Ter)	DDHD2 (R287* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 101083	NM_015214.3(DDHD2):c.1057+5C>G	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GPathogenic
Select item 503722	NM_015214.3(DDHD2):c.1386dup (p.Ile463fs)	DDHD2 (I463fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 39680	NM_015214.3(DDHD2):c.1546C>T (p.Arg516Ter)	DDHD2 (R516* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 54	GPathogenic
Select item 39676	NM_015214.3(DDHD2):c.1803dup (p.Thr602fs)	DDHD2 (T572fs +1 more)	Duplication (frameshift 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)	Generalized epilepsy +5 more	GPathogenic/Likely pathogenic
Select item 91400	NM_015214.3(DDHD2):c.1982_1983del (p.Tyr661fs)	DDHD2 (Y661fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary spastic paraplegia 54	GPathogenic
Select item 39677	NM_015214.3(DDHD2):c.2057del (p.Glu686fs)	DDHD2 (E686fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary spastic paraplegia 54	GPathogenic

ClinVar