ClinVar for Gene (Select 80821) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3371170	NM_001160148.2(DDHD1):c.1624A>G (p.Ile542Val)	DDHD1 (I542V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359051	NM_001160148.2(DDHD1):c.1138A>G (p.Lys380Glu)	DDHD1 (K380E +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 3338263	NM_001160148.2(DDHD1):c.1824dup (p.Pro609fs)	DDHD1 (P609fs +1 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia 28	GPathogenic
Select item 3271190	NM_001160148.2(DDHD1):c.143A>G (p.Asp48Gly)	DDHD1 (D48G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3271189	NM_001160148.2(DDHD1):c.1738C>A (p.Leu580Ile)	DDHD1 (L587I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3271188	NM_001160148.2(DDHD1):c.2359C>T (p.Pro787Ser)	DDHD1 (P794S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3271187	NM_001160148.2(DDHD1):c.170C>T (p.Ala57Val)	DDHD1 (A57V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080727	NM_001160148.2(DDHD1):c.912A>T (p.Glu304Asp)	DDHD1 (E304D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080725	NM_001160148.2(DDHD1):c.308A>G (p.Tyr103Cys)	DDHD1 (Y103C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080724	NM_001160148.2(DDHD1):c.2698A>G (p.Ile900Val)	DDHD1 (I879V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080722	NM_001160148.2(DDHD1):c.2686A>G (p.Asn896Asp)	DDHD1 (N875D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080721	NM_001160148.2(DDHD1):c.2594C>T (p.Thr865Met)	DDHD1 (T837M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080720	NM_001160148.2(DDHD1):c.2486C>T (p.Pro829Leu)	DDHD1 (P829L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080719	NM_001160148.2(DDHD1):c.2270T>G (p.Leu757Arg)	DDHD1 (L764R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080718	NM_001160148.2(DDHD1):c.2045T>C (p.Val682Ala)	DDHD1 (V682A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080717	NM_001160148.2(DDHD1):c.149A>T (p.Asp50Val)	DDHD1 (D50V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080716	NM_001160148.2(DDHD1):c.1239T>A (p.His413Gln)	DDHD1 (H413Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3036848	NM_001160148.2(DDHD1):c.342C>T (p.Ser114=)	DDHD1	Single nucleotide variant (synonymous variant)	DDHD1-related disorder	GLikely benign
Select item 3012826	NM_001160148.2(DDHD1):c.657G>A (p.Thr219=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 3010685	NM_001160148.2(DDHD1):c.1791T>C (p.Leu597=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2993444	NM_001160148.2(DDHD1):c.189C>G (p.Pro63=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2990234	NM_001160148.2(DDHD1):c.1012+661A>G	DDHD1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2970038	NM_001160148.2(DDHD1):c.339C>T (p.Ser113=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2918427	NM_001160148.2(DDHD1):c.816G>A (p.Glu272=)	DDHD1, LOC130055658	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2915385	NM_001160148.2(DDHD1):c.1993-19T>A	DDHD1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2904863	NM_001160148.2(DDHD1):c.2245+7T>G	DDHD1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2903465	NM_001160148.2(DDHD1):c.501G>A (p.Glu167=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2896448	NM_001160148.2(DDHD1):c.282C>G (p.Ala94=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2887767	NM_001160148.2(DDHD1):c.1292T>C (p.Met431Thr)	DDHD1 (M431T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 2842345	NM_001160148.2(DDHD1):c.450C>A (p.Gly150=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2833535	NM_001160148.2(DDHD1):c.1289+19G>T	DDHD1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2824158	NM_001160148.2(DDHD1):c.1503+18C>T	DDHD1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2820237	NM_001160148.2(DDHD1):c.1905C>T (p.Arg635=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2815864	NM_001160148.2(DDHD1):c.1996del (p.Tyr666fs)	DDHD1 (Y673fs +1 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 28	GPathogenic
Select item 2815247	NM_001160148.2(DDHD1):c.2087A>G (p.Glu696Gly)	DDHD1 (E703G +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 2806076	NM_001160148.2(DDHD1):c.838+16G>A	DDHD1, LOC130055658	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2793258	NM_001160148.2(DDHD1):c.423G>A (p.Gly141=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2771081	NM_001160148.2(DDHD1):c.2667C>T (p.His889=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2770829	NM_001160148.2(DDHD1):c.1141+13T>C	DDHD1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2741345	NM_001160148.2(DDHD1):c.1656A>G (p.Pro552=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2739677	NM_001160148.2(DDHD1):c.339_340insGGCGGC (p.Ser113_Ser114insGlyGly)	DDHD1	Insertion (inframe_insertion)	Hereditary spastic paraplegia 28	GBenign
Select item 2731335	NM_001160148.2(DDHD1):c.2437+18T>G	DDHD1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2729529	NM_001160148.2(DDHD1):c.2262A>T (p.Gly754=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2719997	NM_001160148.2(DDHD1):c.2385C>T (p.Thr795=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2717730	NM_001160148.2(DDHD1):c.723G>A (p.Thr241=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2703837	NM_001160148.2(DDHD1):c.222C>T (p.His74=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2702106	NM_001160148.2(DDHD1):c.1992+11A>G	DDHD1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2699071	NM_001160148.2(DDHD1):c.731del (p.His244fs)	DDHD1 (H244fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 28	GPathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2644246	NM_001160148.2(DDHD1):c.381G>A (p.Pro127=)	DDHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644245	NM_001160148.2(DDHD1):c.456_463del (p.Ala153fs)	DDHD1 (A153fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2644244	NM_001160148.2(DDHD1):c.1239T>C (p.His413=)	DDHD1	Single nucleotide variant (synonymous variant)	not provided	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 2644242	NM_001160148.2(DDHD1):c.2508A>G (p.Lys836=)	DDHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2619976	NM_001160148.2(DDHD1):c.1039A>C (p.Asn347His)	DDHD1 (N354H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609284	NM_001160148.2(DDHD1):c.707G>T (p.Gly236Val)	DDHD1 (G236V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591541	NM_001160148.2(DDHD1):c.1718G>A (p.Ser573Asn)	DDHD1 (S573N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543881	NM_001160148.2(DDHD1):c.2286C>A (p.Phe762Leu)	DDHD1 (F762L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537877	NM_001160148.2(DDHD1):c.886A>C (p.Thr296Pro)	DDHD1 (T296P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516916	NM_001160148.2(DDHD1):c.689A>T (p.Asp230Val)	DDHD1 (D230V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516914	NM_001160148.2(DDHD1):c.688G>A (p.Asp230Asn)	DDHD1 (D230N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2503254	NM_001160148.2(DDHD1):c.1755_1758delinsTAACA (p.Thr586fs)	DDHD1 (T586fs +1 more)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 2490933	NM_001160148.2(DDHD1):c.662C>T (p.Pro221Leu)	DDHD1 (P221L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486394	NM_001160148.2(DDHD1):c.2456C>T (p.Ser819Leu)	DDHD1 (S819L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481690	NM_001160148.2(DDHD1):c.1753A>G (p.Ile585Val)	DDHD1 (I585V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473667	NM_001160148.2(DDHD1):c.1208C>T (p.Ser403Leu)	DDHD1 (S410L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443005	NM_001160148.2(DDHD1):c.2662G>T (p.Glu888Ter)	DDHD1 (E860* +2 more)	Single nucleotide variant (nonsense)	Spasticity	GUncertain significance
Select item 2423893	NC_000014.8:g.(?_53513486)_(54418940_?)dup	BMP4, DDHD1	Duplication	Hereditary spastic paraplegia 28	GUncertain significance
Select item 2420738	NM_001160148.2(DDHD1):c.1474T>G (p.Tyr492Asp)	DDHD1 (Y492D +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 2418794	NM_001160148.2(DDHD1):c.1765C>T (p.Arg589Trp)	DDHD1 (R589W +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 2413482	NM_001160148.2(DDHD1):c.241G>C (p.Asp81His)	DDHD1 (D81H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 2374802	NM_001160148.2(DDHD1):c.1646G>A (p.Gly549Asp)	DDHD1 (G556D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2331653	NM_001160148.2(DDHD1):c.2042C>T (p.Pro681Leu)	DDHD1 (P681L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321747	NM_001160148.2(DDHD1):c.2339C>T (p.Ser780Leu)	DDHD1 (S780L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311019	NM_001160148.2(DDHD1):c.1795G>C (p.Gly599Arg)	DDHD1 (G599R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310531	NM_001160148.2(DDHD1):c.487C>G (p.Leu163Val)	DDHD1 (L163V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309790	NM_001160148.2(DDHD1):c.2696C>T (p.Pro899Leu)	DDHD1 (P871L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277566	NM_001160148.2(DDHD1):c.1135T>G (p.Ser379Ala)	DDHD1 (S386A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258105	NM_001160148.2(DDHD1):c.1760A>C (p.Lys587Thr)	DDHD1 (K587T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250683	NM_001160148.2(DDHD1):c.2129C>T (p.Thr710Ile)	DDHD1 (T710I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2201457	NM_001160148.2(DDHD1):c.1400C>T (p.Thr467Ile)	DDHD1 (T474I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 2200947	NM_001160148.2(DDHD1):c.1993-6dup	DDHD1	Duplication (intron variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2199269	NM_001160148.2(DDHD1):c.368C>T (p.Pro123Leu)	DDHD1 (P123L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 2199265	NM_001160148.2(DDHD1):c.2693A>T (p.Asp898Val)	DDHD1 (D898V +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 2197926	NM_001160148.2(DDHD1):c.1751A>G (p.Tyr584Cys)	DDHD1 (Y584C +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 2195400	NM_001160148.2(DDHD1):c.1714A>G (p.Met572Val)	DDHD1 (M572V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 2195393	NM_001160148.2(DDHD1):c.179G>A (p.Arg60His)	DDHD1 (R60H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 2191306	NM_001160148.2(DDHD1):c.1396+14A>C	DDHD1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2186968	NM_001160148.2(DDHD1):c.1766+9T>C	DDHD1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2186346	NM_001160148.2(DDHD1):c.1786C>T (p.Arg596Trp)	DDHD1 (R596W +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 2181680	NM_001160148.2(DDHD1):c.590T>C (p.Leu197Pro)	DDHD1 (L197P)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 2178704	NM_001160148.2(DDHD1):c.601A>G (p.Thr201Ala)	DDHD1 (T201A)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 2176424	NM_001160148.2(DDHD1):c.254G>A (p.Ser85Asn)	DDHD1 (S85N)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 2164898	NM_001160148.2(DDHD1):c.1141+20A>C	DDHD1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2161185	NM_001160148.2(DDHD1):c.965A>C (p.Gln322Pro)	DDHD1 (Q322P)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 2158823	NM_001160148.2(DDHD1):c.1729C>T (p.Arg577Ter)	DDHD1 (R577* +1 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 28	GPathogenic
Select item 2155873	NM_001160148.2(DDHD1):c.1993-8A>T	DDHD1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2155262	NM_001160148.2(DDHD1):c.2286C>T (p.Phe762=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2154658	NM_001160148.2(DDHD1):c.2051T>C (p.Ile684Thr)	DDHD1 (I684T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance

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