"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "DDHD1"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 408872	NM_001160148.2(DDHD1):c.2432C>G (p.Ser811Cys)	DDHD1 (S811C +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28 +2 more	GUncertain significance
Select item 464309	NM_001160148.2(DDHD1):c.2408A>G (p.His803Arg)	DDHD1 (H803R +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28 +3 more	GConflicting classifications of pathogenicity
Select item 1163947	NM_001160148.2(DDHD1):c.2063A>G (p.Asn688Ser)	DDHD1 (N688S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163948	NM_001160148.2(DDHD1):c.1713G>T (p.Trp571Cys)	DDHD1 (W571C +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28 +1 more	GUncertain significance
Select item 2075228	NM_001160148.2(DDHD1):c.1378A>C (p.Lys460Gln)	DDHD1 (K460Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28 +2 more	GUncertain significance
Select item 949744	NM_001160148.2(DDHD1):c.1120C>A (p.Gln374Lys)	DDHD1 (Q381K +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28 +1 more	GUncertain significance
Select item 576186	NM_001160148.2(DDHD1):c.976G>C (p.Asp326His)	DDHD1 (D326H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1139915	NM_001160148.2(DDHD1):c.941A>G (p.Asn314Ser)	DDHD1 (N314S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1694099	NM_001160148.2(DDHD1):c.811G>A (p.Gly271Arg)	DDHD1, LOC130055658 (G271R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163949	NM_001160148.2(DDHD1):c.743T>C (p.Met248Thr)	DDHD1 (M248T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380195	NM_001160148.2(DDHD1):c.519G>C (p.Lys173Asn)	DDHD1 (K173N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163950	NM_001160148.2(DDHD1):c.472G>A (p.Glu158Lys)	DDHD1 (E158K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 664302	NM_001160148.2(DDHD1):c.184G>A (p.Glu62Lys)	DDHD1 (E62K)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28 +1 more	GUncertain significance
Select item 849874	NM_001160148.2(DDHD1):c.100T>G (p.Phe34Val)	DDHD1 (F34V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1342298	NM_001160148.2(DDHD1):c.53GCG[6] (p.Gly22dup)	DDHD1	Microsatellite (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 532960	NM_001160148.2(DDHD1):c.19G>A (p.Gly7Arg)	DDHD1 (G7R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance