"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "DDHD1"[gen - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374483	NM_001160148.2(DDHD1):c.2649C>T (p.Phe883=)	DDHD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2644242	NM_001160148.2(DDHD1):c.2508A>G (p.Lys836=)	DDHD1	Single nucleotide variant (synonymous variant +1 more)	DDHD1-related condition +1 more	GLikely benign
Select item 464309	NM_001160148.2(DDHD1):c.2408A>G (p.His803Arg)	DDHD1 (H803R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1675540	NM_001160148.2(DDHD1):c.2358G>A (p.Lys786=)	DDHD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 807113	NM_001160148.2(DDHD1):c.2300G>A (p.Arg767His)	DDHD1 (R774H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1152180	NM_001160148.2(DDHD1):c.1905C>G (p.Arg635=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28 +1 more	GLikely benign
Select item 391323	NM_001160148.2(DDHD1):c.1794C>T (p.His598=)	DDHD1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2644243	NM_001160148.2(DDHD1):c.1749C>G (p.Leu583=)	DDHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 380535	NM_001160148.2(DDHD1):c.1524A>G (p.Gln508=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28 +2 more	GBenign/Likely benign
Select item 238598	NM_001160148.2(DDHD1):c.1503+10A>T	DDHD1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 2644244	NM_001160148.2(DDHD1):c.1239T>C (p.His413=)	DDHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 415255	NM_001160148.2(DDHD1):c.1191A>G (p.Thr397=)	DDHD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 382077	NM_001160148.2(DDHD1):c.1056C>T (p.His352=)	DDHD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 698318	NM_001160148.2(DDHD1):c.882C>T (p.Asp294=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28 +1 more	GBenign/Likely benign
Select item 1879278	NM_001160148.2(DDHD1):c.637G>C (p.Asp213His)	DDHD1 (D213H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 532961	NM_001160148.2(DDHD1):c.579C>T (p.Ala193=)	DDHD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1335146	NM_001160148.2(DDHD1):c.487C>T (p.Leu163=)	DDHD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2644245	NM_001160148.2(DDHD1):c.456_463del (p.Ala153fs)	DDHD1 (A153fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1012835	NM_001160148.2(DDHD1):c.456G>C (p.Ala152=)	DDHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644246	NM_001160148.2(DDHD1):c.381G>A (p.Pro127=)	DDHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 415257	NM_001160148.2(DDHD1):c.325GGC[7] (p.Gly110_Gly112dup)	DDHD1	Microsatellite (inframe_insertion)	not provided +2 more	GBenign/Likely benign
Select item 415256	NM_001160148.2(DDHD1):c.156C>T (p.Gly52=)	DDHD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 22