"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1344284	NM_001160148.2(DDHD1):c.*3346AC[18]	DDHD1	Microsatellite (3 prime UTR variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 696302	NM_001160148.2(DDHD1):c.2668G>A (p.Asp890Asn)	DDHD1 (D862N +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
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 373562	NM_001160148.2(DDHD1):c.2299C>T (p.Arg767Cys)	DDHD1 (R767C +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1344294	NM_001160148.2(DDHD1):c.2279T>C (p.Met760Thr)	DDHD1 (M760T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344293	NM_001160148.2(DDHD1):c.2247G>T (p.Gly749=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344292	NM_001160148.2(DDHD1):c.2195G>A (p.Arg732His)	DDHD1 (R732H +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 704467	NM_001160148.2(DDHD1):c.2160C>T (p.Thr720=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28 +1 more	GConflicting classifications of pathogenicity
Select item 695980	NM_001160148.2(DDHD1):c.1993-19dup	DDHD1	Duplication (intron variant)	Hereditary spastic paraplegia +1 more	GBenign/Likely benign
Select item 1344289	NM_001160148.2(DDHD1):c.1931A>G (p.His644Arg)	DDHD1 (H644R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 391795	NM_001160148.2(DDHD1):c.1890G>A (p.Ala630=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28 +3 more	GBenign/Likely benign
Select item 422933	NM_001160148.2(DDHD1):c.1754dup (p.Thr586fs)	DDHD1 (T593fs +1 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia 28 +2 more	GPathogenic/Likely pathogenic
Select item 1344288	NM_001160148.2(DDHD1):c.1553G>T (p.Cys518Phe)	DDHD1 (C518F +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28 +1 more	GUncertain significance
Select item 380535	NM_001160148.2(DDHD1):c.1524A>G (p.Gln508=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +2 more	GBenign/Likely benign
Select item 1344287	NM_001160148.2(DDHD1):c.1212G>T (p.Gln404His)	DDHD1 (Q404H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1344286	NM_001160148.2(DDHD1):c.1142-7T>C	DDHD1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 28 +1 more	GConflicting classifications of pathogenicity
Select item 1344285	NM_001160148.2(DDHD1):c.1014T>C (p.Ala338=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344297	NM_001160148.2(DDHD1):c.960G>A (p.Gln320=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28 +1 more	GConflicting classifications of pathogenicity
Select item 1344296	NM_001160148.2(DDHD1):c.862C>T (p.Arg288Cys)	DDHD1 (R288C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344295	NM_001160148.2(DDHD1):c.684T>C (p.Asp228=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28 +1 more	GConflicting classifications of pathogenicity
Select item 380446	NM_001160148.2(DDHD1):c.453G>A (p.Pro151=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GBenign
Select item 381452	NM_001160148.2(DDHD1):c.448G>T (p.Gly150Cys)	DDHD1 (G150C)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 648556	NM_001160148.2(DDHD1):c.266A>G (p.Tyr89Cys)	DDHD1 (Y89C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 969268	NM_001160148.2(DDHD1):c.182G>C (p.Gly61Ala)	DDHD1 (G61A)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28 +1 more	GUncertain significance
Select item 699780	NM_001160148.2(DDHD1):c.181G>C (p.Gly61Arg)	DDHD1 (G61R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 415256	NM_001160148.2(DDHD1):c.156C>T (p.Gly52=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 238597	NM_001160148.2(DDHD1):c.136G>A (p.Gly46Ser)	DDHD1 (G46S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28 +3 more	GBenign
Select item 1344290	NM_001160148.2(DDHD1):c.19G>C (p.Gly7Arg)	DDHD1 (G7R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance

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Items: 28